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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80 90
P R F I K K L E P S R I V K Q D E F T R Y E C K I G G S P E I K V L W Y K D E T E I Q E S S K F R M S F V D S V A V L E M H N L S V E D S G D Y T C E A H N A A G S A S S S T S L K V K
P R F I K K L E P S R I V K Q D E F T R Y E C K I G G S P E I K V L W Y K D E T E I Q E S S K F R M S F V D S V A V L E M H N L S V E D S G D Y T C E A H N A A G S A S S S T S L K V -

Map SAVs to Structure

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
8549 1 P/H 1 rs774351461 0.2097 None gnomAD-2.1.1 5.34E-05
8549 1 P/H 1 rs774351461 0.2097 None gnomAD-3.1.2 2.63E-05
8549 1 P/H 1 rs774351461 0.2097 None gnomAD-4.0.0 8.6227E-05
8549 1 P/L 1 None 0.2097 None gnomAD-4.0.0 1.40334E-06
8549 1 P/S 1 rs536374359 0.2097 None gnomAD-2.1.1 3.66E-05
8549 1 P/S 1 rs536374359 0.2097 None gnomAD-3.1.2 2.63E-05
8549 1 P/S 1 rs536374359 0.2097 None 1000 genomes 1.99681E-04
8549 1 P/S 1 rs536374359 0.2097 None gnomAD-4.0.0 2.34722E-05
8550 2 R/G 2 rs371161599 0.5082 None gnomAD-2.1.1 1.55E-05
8550 2 R/G 2 rs371161599 0.5082 None gnomAD-4.0.0 5.61101E-06
8550 2 R/M 2 None 0.5082 None gnomAD-4.0.0 7.01471E-07
8550 2 R/S 2 rs2077385819 0.5082 None gnomAD-4.0.0 8.40998E-06
8552 4 I/T 4 rs940884256 0.4675 None gnomAD-2.1.1 5E-06
8552 4 I/T 4 rs940884256 0.4675 None gnomAD-3.1.2 1.97E-05
8552 4 I/T 4 rs940884256 0.4675 None gnomAD-4.0.0 5.05384E-06
8554 6 K/E 7 rs201945791 0.6609 None gnomAD-2.1.1 1.15357E-04
8554 6 K/E 7 rs201945791 0.6609 None gnomAD-3.1.2 1.11732E-04
8554 6 K/E 7 rs201945791 0.6609 None gnomAD-4.0.0 8.32718E-05
8554 6 K/N 7 rs568546539 0.6609 None gnomAD-2.1.1 4.92E-05
8554 6 K/N 7 rs568546539 0.6609 None gnomAD-3.1.2 1.97E-05
8554 6 K/N 7 rs568546539 0.6609 None 1000 genomes 3.99361E-04
8554 6 K/N 7 rs568546539 0.6609 None gnomAD-4.0.0 1.26109E-05
8555 7 L/Q 8 None 0.1822 None gnomAD-4.0.0 6.96823E-07
8556 8 E/D 9 None 0.6425 None gnomAD-4.0.0 3.31776E-06
8557 9 P/T 11 None 0.7295 None gnomAD-4.0.0 1.65379E-06
8559 11 R/K 14 rs745818225 0.2426 None gnomAD-2.1.1 4.72E-06
8559 11 R/K 14 rs745818225 0.2426 None gnomAD-4.0.0 2.08309E-06
8560 12 I/T 16 rs727504204 0.6596 None gnomAD-4.0.0 1.38592E-06
8561 13 V/L 17 None 0.1836 None gnomAD-4.0.0 6.92609E-07
8561 13 V/M 17 None 0.1836 None gnomAD-4.0.0 6.23348E-06
8563 15 Q/E 23 None 0.4026 None gnomAD-4.0.0 2.76474E-06
8564 16 D/G 24 rs770623711 0.5978 None gnomAD-2.1.1 8.91E-06
8564 16 D/G 24 rs770623711 0.5978 None gnomAD-4.0.0 2.07109E-06
8567 19 T/A 28 rs777832511 0.1623 None gnomAD-2.1.1 4.34E-06
8567 19 T/A 28 rs777832511 0.1623 None gnomAD-3.1.2 1.97E-05
8567 19 T/A 28 rs777832511 0.1623 None gnomAD-4.0.0 6.2339E-06
8567 19 T/K 28 rs867794054 0.1623 None gnomAD-4.0.0 1.61538E-06
8567 19 T/P 28 rs777832511 0.1623 None gnomAD-2.1.1 4.34E-06
8567 19 T/P 28 rs777832511 0.1623 None gnomAD-3.1.2 6.57E-06
8567 19 T/P 28 rs777832511 0.1623 None gnomAD-4.0.0 6.57263E-06
8568 20 R/M 29 None 0.2730 None gnomAD-4.0.0 1.61428E-06
8568 20 R/S 29 None 0.2730 None gnomAD-4.0.0 6.88015E-07
8570 22 E/K 31 rs552462622 0.3221 None gnomAD-2.1.1 4.12E-05
8570 22 E/K 31 rs552462622 0.3221 None gnomAD-3.1.2 7.23E-05
8570 22 E/K 31 rs552462622 0.3221 None 1000 genomes 1.99681E-04
8570 22 E/K 31 rs552462622 0.3221 None gnomAD-4.0.0 1.44985E-04
8573 25 I/L 35 rs142609645 0.1131 None gnomAD-2.1.1 1.1E-05
8573 25 I/L 35 rs142609645 0.1131 None gnomAD-3.1.2 7.23E-05
8573 25 I/L 35 rs142609645 0.1131 None 1000 genomes 1.99681E-04
8573 25 I/L 35 rs142609645 0.1131 None gnomAD-4.0.0 8.07615E-06
8574 26 G/D 38 None 0.2452 None gnomAD-4.0.0 6.85839E-07
8574 26 G/R 38 None 0.2452 None gnomAD-4.0.0 6.85979E-07
8574 26 G/S 38 rs752013701 0.2452 None gnomAD-2.1.1 1.83E-05
8574 26 G/S 38 rs752013701 0.2452 None gnomAD-3.1.2 3.29E-05
8574 26 G/S 38 rs752013701 0.2452 None gnomAD-4.0.0 5.59085E-06
8575 27 G/E 40 None 0.4817 None gnomAD-4.0.0 1.59856E-06
8575 27 G/R 40 rs397517517 0.4817 None gnomAD-2.1.1 8.25E-06
8575 27 G/R 40 rs397517517 0.4817 None gnomAD-3.1.2 1.97E-05
8575 27 G/R 40 rs397517517 0.4817 None gnomAD-4.0.0 9.93517E-06
8576 28 S/F 41 rs376095355 0.7458 None gnomAD-2.1.1 8.2E-06
8576 28 S/F 41 rs376095355 0.7458 None gnomAD-4.0.0 1.16503E-05
8576 28 S/P 41 rs1176708240 0.7458 None gnomAD-2.1.1 4.11E-06
8576 28 S/P 41 rs1176708240 0.7458 None gnomAD-3.1.2 6.58E-06
8576 28 S/P 41 rs1176708240 0.7458 None gnomAD-4.0.0 6.42695E-06
8577 29 P/T 42 None 0.5536 None gnomAD-4.0.0 1.59731E-06
8579 31 I/F 44 None 0.1699 None gnomAD-4.0.0 6.84841E-07
8579 31 I/V 44 None 0.1699 None gnomAD-4.0.0 1.36968E-06
8580 32 K/R 45 None 0.6621 None gnomAD-4.0.0 1.59385E-06
8581 33 V/F 46 None 0.2361 None gnomAD-4.0.0 6.84702E-07
8581 33 V/I 46 rs1014791707 0.2361 None gnomAD-4.0.0 3.42351E-06
8581 33 V/L 46 rs1014791707 0.2361 None gnomAD-2.1.1 4.06E-06
8581 33 V/L 46 rs1014791707 0.2361 None gnomAD-4.0.0 1.36941E-06
8582 34 L/S 47 None 0.3679 None gnomAD-4.0.0 1.20032E-06
8582 34 L/V 47 rs1420202972 0.3679 None gnomAD-2.1.1 7.18E-06
8582 34 L/V 47 rs1420202972 0.3679 None gnomAD-3.1.2 6.58E-06
8582 34 L/V 47 rs1420202972 0.3679 None gnomAD-4.0.0 2.56512E-06
8583 35 W/R 48 None 0.1471 None gnomAD-4.0.0 2.05362E-06
8584 36 Y/C 49 rs1440957407 0.2160 None gnomAD-2.1.1 3.18E-05
8584 36 Y/C 49 rs1440957407 0.2160 None gnomAD-3.1.2 1.31E-05
8584 36 Y/C 49 rs1440957407 0.2160 None gnomAD-4.0.0 1.3146E-05
8584 36 Y/H 49 None 0.2160 None gnomAD-4.0.0 1.20032E-06
8586 38 D/N 51 rs1199035064 0.4219 None gnomAD-2.1.1 4.03E-06
8586 38 D/N 51 rs1199035064 0.4219 None gnomAD-4.0.0 3.42209E-06
8586 38 D/V 51 rs1484446680 0.4219 None gnomAD-2.1.1 4.03E-06
8586 38 D/V 51 rs1484446680 0.4219 None gnomAD-4.0.0 1.5924E-06
8587 39 E/D 52 rs2077371991 0.7746 None gnomAD-4.0.0 1.59227E-06
8587 39 E/K 52 rs760340908 0.7746 None gnomAD-2.1.1 8.07E-06
8587 39 E/K 52 rs760340908 0.7746 None gnomAD-4.0.0 1.09508E-05
8587 39 E/Q 52 rs760340908 0.7746 None gnomAD-2.1.1 4.03E-06
8587 39 E/Q 52 rs760340908 0.7746 None gnomAD-3.1.2 6.58E-06
8587 39 E/Q 52 rs760340908 0.7746 None gnomAD-4.0.0 6.57609E-06
8593 45 S/R 73 rs560562125 0.2341 None gnomAD-2.1.1 4.02E-06
8593 45 S/R 73 rs560562125 0.2341 None gnomAD-3.1.2 6.58E-06
8593 45 S/R 73 rs560562125 0.2341 None 1000 genomes 1.99681E-04
8593 45 S/R 73 rs560562125 0.2341 None gnomAD-4.0.0 6.57255E-06
8594 46 S/G 111 None 0.7302 None gnomAD-4.0.0 2.40064E-06
8594 46 S/N 111 rs759108676 0.7302 None gnomAD-2.1.1 4.02E-06
8594 46 S/N 111 rs759108676 0.7302 None gnomAD-4.0.0 1.20032E-06
8594 46 S/R 111 None 0.7302 None gnomAD-4.0.0 6.84299E-07
8595 47 K/N 115 None 0.1958 None gnomAD-4.0.0 1.59172E-06
8595 47 K/Q 115 None 0.1958 None gnomAD-4.0.0 1.36859E-06
8595 47 K/R 115 rs774140425 0.1958 None gnomAD-2.1.1 2.01E-05
8595 47 K/R 115 rs774140425 0.1958 None gnomAD-3.1.2 6.57E-06
8595 47 K/R 115 rs774140425 0.1958 None gnomAD-4.0.0 1.66584E-05
8598 50 M/I 123 rs770947302 0.2153 None gnomAD-2.1.1 1.21E-05
8598 50 M/I 123 rs770947302 0.2153 None gnomAD-4.0.0 3.18338E-06
8598 50 M/T 123 None 0.2153 None gnomAD-4.0.0 1.20032E-06
8598 50 M/V 123 rs1180662147 0.2153 None gnomAD-3.1.2 6.57E-06
8598 50 M/V 123 rs1180662147 0.2153 None gnomAD-4.0.0 6.57393E-06
8600 52 F/L 127 None 0.3319 None gnomAD-4.0.0 1.59164E-06
8600 52 F/Y 127 None 0.3319 None gnomAD-4.0.0 1.20032E-06
8601 53 V/F 130 rs184812963 0.6599 None gnomAD-2.1.1 5E-05
8601 53 V/F 130 rs184812963 0.6599 None gnomAD-3.1.2 1.97E-05
8601 53 V/F 130 rs184812963 0.6599 None 1000 genomes 1.99681E-04
8601 53 V/F 130 rs184812963 0.6599 None gnomAD-4.0.0 1.42535E-05
8601 53 V/I 130 rs184812963 0.6599 None gnomAD-2.1.1 4.02E-06
8601 53 V/I 130 rs184812963 0.6599 None gnomAD-4.0.0 5.47425E-06
8602 54 D/E 131 None 0.9060 None gnomAD-4.0.0 6.84271E-07
8603 55 S/L 134 rs781354478 0.3473 None gnomAD-2.1.1 1.21E-05
8603 55 S/L 134 rs781354478 0.3473 None gnomAD-3.1.2 1.32E-05
8603 55 S/L 134 rs781354478 0.3473 None gnomAD-4.0.0 6.81796E-06
8603 55 S/P 134 rs748398405 0.3473 None gnomAD-2.1.1 4.02E-06
8603 55 S/P 134 rs748398405 0.3473 None gnomAD-3.1.2 6.57E-06
8603 55 S/P 134 rs748398405 0.3473 None gnomAD-4.0.0 6.57324E-06
8603 55 S/W 134 None 0.3473 None gnomAD-4.0.0 6.84275E-07
8604 56 V/A 135 None 0.2274 None gnomAD-4.0.0 1.59158E-06
8604 56 V/M 135 rs1160730554 0.2274 None gnomAD-2.1.1 4.02E-06
8604 56 V/M 135 rs1160730554 0.2274 None gnomAD-4.0.0 1.59157E-06
8605 57 A/T 136 None 0.0914 None gnomAD-4.0.0 1.59158E-06
8606 58 V/G 137 rs747173071 0.1386 None gnomAD-2.1.1 8.04E-06
8606 58 V/G 137 rs747173071 0.1386 None gnomAD-4.0.0 1.59157E-06
8606 58 V/L 137 None 0.1386 None gnomAD-4.0.0 6.84269E-07
8606 58 V/M 137 rs1453874617 0.1386 None gnomAD-2.1.1 4.02E-06
8606 58 V/M 137 rs1453874617 0.1386 None gnomAD-4.0.0 6.84269E-07
8607 59 L/P 138 rs780404365 0.0723 None gnomAD-2.1.1 4.02E-06
8607 59 L/R 138 None 0.0723 None gnomAD-4.0.0 1.59155E-06
8608 60 E/A 139 None 0.2570 None gnomAD-4.0.0 6.84262E-07
8608 60 E/G 139 None 0.2570 None gnomAD-4.0.0 6.84262E-07
8609 61 M/I 140 rs1407524421 0.0744 None gnomAD-4.0.0 2.05282E-06
8609 61 M/V 140 rs1369418506 0.0744 None gnomAD-3.1.2 6.57E-06
8609 61 M/V 140 rs1369418506 0.0744 None gnomAD-4.0.0 6.57445E-06
8610 62 H/P 141 None 0.2877 None gnomAD-4.0.0 6.84261E-07
8610 62 H/Q 141 rs200939405 0.2877 None gnomAD-2.1.1 3.21E-05
8610 62 H/Q 141 rs200939405 0.2877 None gnomAD-3.1.2 5.92E-05
8610 62 H/Q 141 rs200939405 0.2877 None gnomAD-4.0.0 8.67733E-06
8610 62 H/R 141 rs561059250 0.2877 None gnomAD-2.1.1 3.57E-05
8610 62 H/R 141 rs561059250 0.2877 None gnomAD-3.1.2 3.29E-05
8610 62 H/R 141 rs561059250 0.2877 None 1000 genomes 1.99681E-04
8610 62 H/R 141 rs561059250 0.2877 None gnomAD-4.0.0 1.98311E-05
8611 63 N/K 143 None 0.7793 None gnomAD-4.0.0 1.20032E-06
8611 63 N/S 143 rs779262321 0.7793 None gnomAD-2.1.1 1.21E-05
8611 63 N/S 143 rs779262321 0.7793 None gnomAD-3.1.2 6.58E-06
8611 63 N/S 143 rs779262321 0.7793 None gnomAD-4.0.0 2.16925E-05
8612 64 L/F 144 rs755695660 0.1135 None gnomAD-2.1.1 4.02E-06
8612 64 L/F 144 rs755695660 0.1135 None gnomAD-3.1.2 6.58E-06
8612 64 L/F 144 rs755695660 0.1135 None gnomAD-4.0.0 1.85944E-06
8612 64 L/R 144 rs1345942434 0.1135 None gnomAD-3.1.2 6.58E-06
8612 64 L/R 144 rs1345942434 0.1135 None gnomAD-4.0.0 6.58155E-06
8613 65 S/R 145 None 0.1551 None gnomAD-4.0.0 6.84264E-07
8614 66 V/A 146 None 0.5102 None gnomAD-4.0.0 1.59153E-06
8615 67 E/D 148 rs758944073 0.4075 None gnomAD-2.1.1 4.02E-06
8615 67 E/D 148 rs758944073 0.4075 None gnomAD-4.0.0 6.84269E-07
8617 69 S/I 151 None 0.2064 None gnomAD-4.0.0 1.5916E-06
8617 69 S/N 151 rs1361559046 0.2064 None gnomAD-2.1.1 8.05E-06
8617 69 S/N 151 rs1361559046 0.2064 None gnomAD-4.0.0 6.36641E-06
8618 70 G/E 152 rs369947439 0.1662 None gnomAD-2.1.1 4.42E-05
8618 70 G/E 152 rs369947439 0.1662 None gnomAD-3.1.2 6.58E-05
8618 70 G/E 152 rs369947439 0.1662 None gnomAD-4.0.0 4.89647E-05
8619 71 D/G 153 rs2077359221 0.5818 None gnomAD-4.0.0 4.10566E-06
8620 72 Y/C 154 None 0.1129 None gnomAD-4.0.0 1.59163E-06
8621 73 T/I 155 None 0.2119 None gnomAD-4.0.0 6.84286E-07
8621 73 T/N 155 rs899151063 0.2119 None gnomAD-2.1.1 8.05E-06
8621 73 T/N 155 rs899151063 0.2119 None gnomAD-3.1.2 6.57E-06
8621 73 T/N 155 rs899151063 0.2119 None gnomAD-4.0.0 4.33843E-06
8622 74 C/Y 156 None 0.0686 None gnomAD-4.0.0 1.59168E-06
8623 75 E/D 157 None 0.3260 None gnomAD-4.0.0 1.36861E-06
8623 75 E/G 157 rs766190373 0.3260 None gnomAD-2.1.1 4.02E-06
8626 78 N/D 161 rs2077357318 0.1657 None gnomAD-3.1.2 6.57E-06
8626 78 N/D 161 rs2077357318 0.1657 None gnomAD-4.0.0 6.57177E-06
8626 78 N/S 161 rs200355367 0.1657 None gnomAD-2.1.1 1.21503E-04
8626 78 N/S 161 rs200355367 0.1657 None gnomAD-3.1.2 1.70882E-04
8626 78 N/S 161 rs200355367 0.1657 None gnomAD-4.0.0 3.26633E-04
8627 79 A/V 162 rs1349154909 0.7380 None gnomAD-2.1.1 3.19E-05
8627 79 A/V 162 rs1349154909 0.7380 None gnomAD-3.1.2 6.57E-06
8627 79 A/V 162 rs1349154909 0.7380 None gnomAD-4.0.0 2.02993E-06
8628 80 A/V 163 None 0.7239 None gnomAD-4.0.0 1.59257E-06
8629 81 G/S 164 rs2077356013 0.3170 None gnomAD-3.1.2 6.57E-06
8629 81 G/S 164 rs2077356013 0.3170 None gnomAD-4.0.0 6.57479E-06
8629 81 G/V 164 None 0.3170 None gnomAD-4.0.0 1.59355E-06
8630 82 S/C 165 None 0.5445 None gnomAD-4.0.0 1.20032E-06
8631 83 A/T 166 rs769720173 0.2198 None gnomAD-2.1.1 2.42E-05
8631 83 A/T 166 rs769720173 0.2198 None gnomAD-3.1.2 6.57E-06
8631 83 A/T 166 rs769720173 0.2198 None gnomAD-4.0.0 8.98124E-06
8632 84 S/G 168 None 0.4102 None gnomAD-4.0.0 2.40064E-06
8633 85 S/G 169 rs776980958 0.1218 None gnomAD-2.1.1 4.03E-06
8633 85 S/G 169 rs776980958 0.1218 None gnomAD-4.0.0 1.59484E-06
8634 86 S/C 171 rs769050572 0.3693 None gnomAD-2.1.1 1.21E-05
8634 86 S/C 171 rs769050572 0.3693 None gnomAD-3.1.2 6.57E-06
8634 86 S/C 171 rs769050572 0.3693 None gnomAD-4.0.0 3.10148E-06
8635 87 T/A 172 None 0.1054 None gnomAD-4.0.0 1.20039E-06
8635 87 T/I 172 rs1005082166 0.1054 None gnomAD-3.1.2 6.57E-06
8635 87 T/I 172 rs1005082166 0.1054 None gnomAD-4.0.0 1.24085E-06
8636 88 S/A 173 rs1448059327 0.2637 None gnomAD-2.1.1 4.04E-06
8636 88 S/A 173 rs1448059327 0.2637 None gnomAD-4.0.0 1.59608E-06
8636 88 S/T 173 rs1448059327 0.2637 None gnomAD-2.1.1 3.19E-05
8636 88 S/T 173 rs1448059327 0.2637 None gnomAD-3.1.2 6.57E-06
8636 88 S/T 173 rs1448059327 0.2637 None gnomAD-4.0.0 3.85262E-06
8638 90 K/N 175 None 0.6783 None gnomAD-4.0.0 1.59765E-06
8639 91 V/I 177 rs1427227571 0.1162 None gnomAD-2.1.1 4.05E-06
8639 91 V/I 177 rs1427227571 0.1162 None gnomAD-4.0.0 1.371E-06