PIEZO1 (Piezo-type mechanosensitive ion channel component 1) variants and mutations
PIEZO1 (also known as Piezo-type mechanosensitive ion channel component 1) is a human protein-coding gene encoding a piezo-type mechanosensitive ion channel component 1 protein. The protein forms a mechanically activated, nonselective cation channel that converts membrane tension into an electrical and calcium signal. It contributes to touch, blood-cell volume control, and lymphatic development, and PIEZO1 variants are associated with dehydrated stomatocytosis and lymphatic malformations. This analysis covers 4,518 PIEZO1 variants and mutations. Of these, 99% have computational variant effect predictions. Disease context includes dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or p, lymphedema, hereditary, iii, and lymphatic malformation 6. Example PIEZO1 variants include E2G, P3L, and P3S.
Variant analysis overview
- Gene: PIEZO1
- Protein: Piezo-type mechanosensitive ion channel component 1
- UniProt accession: Q92508
- Organism: Homo sapiens
- Variants analyzed: 4518
- Variant scope: all variants
- Completed: 2026-05-15
Variant and mutation evidence
- Variant composition: 4,185 unspecified-consequence records; 5 in-frame insertions; 11 in-frame deletions; 62 synonymous variants; 208 missense variants; 18 frameshift variants; 3 stop lost; 20 stop-gained variants; 5 splice-region variants; 1 substitution
- Prediction scores: 4,488 variants have prediction scores (99% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or p, lymphedema, hereditary, iii, lymphatic malformation 6, dehydrated hereditary stomatocytosis, Varicose veins, Non-immune hydrops fetalis, genetic disorder, vein disorder, hydrops fetalis, hypothyroidism, Thickened nuchal skin fold, osteoarthritis, knee.
Protein structure and variant hotspots
- Protein features: 38 transmembrane segments; 9 post-translational modification sites.
- Structural context: 1,153 variants have structural context.
- PTM context: 18 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, PharmGKB, MaveDB, LitVar.
Notable PIEZO1 variants
Examples include E2G, P3L, P3S, H4L, H4Q, H4R, H4Y, V5E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- E2G (p.Glu2Gly), Ensembl rs1908115352, REVEL 0.25, ESM-1b 0.00
- P3L (p.Pro3Leu), TOPMed rs1009243195, gnomAD rs1009243195, REVEL 0.07, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- P3S (p.Pro3Ser), TOPMed rs1908115238, REVEL 0.04, ESM-1b 0.00
- H4L (p.His4Leu), 1000Genomes rs1226032010, TOPMed rs1226032010, gnomAD rs1226032010, REVEL 0.31, ESM-1b 0.00
- H4Q (p.His4Gln), TOPMed rs1009719451, gnomAD rs1009719451, REVEL 0.22, ESM-1b 0.00
- H4R (p.His4Arg), 1000Genomes rs1226032010, TOPMed rs1226032010, gnomAD rs1226032010, REVEL 0.23, ESM-1b 0.00
- H4Y (p.His4Tyr), TOPMed rs1908114771, gnomAD rs1908114771, REVEL 0.21, ESM-1b 0.00
- V5E (p.Val5Glu), TOPMed rs1209253355, ESM-1b 0.00, AlphaMissense 0.35
- V5L (p.Val5Leu), TOPMed rs1447527615, gnomAD rs1447527615, REVEL 0.08, ESM-1b 0.00
- V5M (p.Val5Met), TOPMed rs1447527615, gnomAD rs1447527615, REVEL 0.29, ESM-1b 0.00
- G7C (p.Gly7Cys), gnomAD rs1226315961, REVEL 0.08, ESM-1b 0.00, Uncertain significance
- G7R (p.Gly7Arg), rs1226315961, ClinGen CA397064814, ClinVar RCV001331712, gnomAD rs1226315961, REVEL 0.32, ESM-1b 0.00, Uncertain significance, Lymphatic malformation 6
- A8E (p.Ala8Glu), gnomAD rs1324467727, REVEL 0.32, ESM-1b 0.26
- A8G (p.Ala8Gly), gnomAD rs1324467727, REVEL 0.06, ESM-1b 0.00
- A8S (p.Ala8Ser), Ensembl rs1235553614, REVEL 0.09, ESM-1b 0.00
- L10P (p.Leu10Pro), Ensembl rs1471690434, REVEL 0.59, ESM-1b 0.44
- Y11* (p.Tyr11Ter), Ensembl rs2142919711, CADD 37.00
- Y11C (p.Tyr11Cys), gnomAD rs1188359443, REVEL 0.42, ESM-1b 0.00
- L13V (p.Leu13Val), ExAC rs762677988, gnomAD rs762677988, REVEL 0.26, ESM-1b 0.00
- L14M (p.Leu14Met), TOPMed rs1426601342, gnomAD rs1426601342, REVEL 0.41, ESM-1b 1.00
- L14P (p.Leu14Pro), Ensembl rs1908112233, REVEL 0.67, ESM-1b 1.00
- L15V (p.Leu15Val), TOPMed rs1391613052, gnomAD rs1391613052, REVEL 0.42, ESM-1b 0.00
- P16L (p.Pro16Leu), Ensembl rs1597495079, REVEL 0.70, ESM-1b 0.12
- C17S (p.Cys17Ser), TOPMed rs1908111318, gnomAD rs1908111318, REVEL 0.02, ESM-1b 0.00
- A18T (p.Ala18Thr), 1000Genomes rs1908111197, TOPMed rs1908111197, REVEL 0.07, ESM-1b 0.66, Uncertain significance, Inborn genetic diseases
- A18V (p.Ala18Val), gnomAD rs1474552001, REVEL 0.05, ESM-1b 0.00
- L19P (p.Leu19Pro), gnomAD rs1194877337, REVEL 0.72, ESM-1b 1.00
- A21G (p.Ala21Gly), gnomAD rs1452825069, REVEL 0.35, ESM-1b 0.00
- A21S (p.Ala21Ser), gnomAD rs1225431053, REVEL 0.26, ESM-1b 0.00
- A21V (p.Ala21Val), gnomAD rs1452825069, REVEL 0.16, ESM-1b 0.00
- A22S (p.Ala22Ser), ExAC rs769822489, TOPMed rs769822489, gnomAD rs769822489, REVEL 0.45, ESM-1b 0.34
- A22T (p.Ala22Thr), ExAC rs769822489, TOPMed rs769822489, gnomAD rs769822489, REVEL 0.58, ESM-1b 1.00
- A22V (p.Ala22Val), ExAC rs762733409, gnomAD rs762733409, REVEL 0.44, ESM-1b 1.00
- C23F (p.Cys23Phe), gnomAD rs1339064718, REVEL 0.22, ESM-1b 0.43
- C23Y (p.Cys23Tyr), gnomAD rs1339064718, REVEL 0.26, ESM-1b 1.00
- L25F (p.Leu25Phe), Ensembl rs1906269803, REVEL 0.10, ESM-1b 0.09
- R26C (p.Arg26Cys), ExAC rs752527980, TOPMed rs752527980, gnomAD rs752527980, REVEL 0.64, ESM-1b 1.00
- R26H (p.Arg26His), rs780945315, ClinGen CA286454684, ClinVar RCV003131948, ClinVar RCV005455745, REVEL 0.60, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases; not provided
- R26L (p.Arg26Leu), TOPMed rs780945315, gnomAD rs780945315, REVEL 0.63, ESM-1b 1.00, Uncertain significance
- S28G (p.Ser28Gly), gnomAD rs1402955997, REVEL 0.21, ESM-1b 0.47
- G29R (p.Gly29Arg), gnomAD rs987409464, REVEL 0.33, ESM-1b 1.00
- G29G (p.Gly29Gly), rs78114078, gnomAD 16-88716097-G-A, CADD 0.04
- L30V (p.Leu30Val), TOPMed rs1906268661, gnomAD rs1906268661, REVEL 0.29, ESM-1b 1.00
- S31L (p.Ser31Leu), TOPMed rs1906268437, REVEL 0.64, ESM-1b 1.00
- L32M (p.Leu32Met), rs370663645, ClinGen CA8233431, ClinVar RCV000897670, ClinVar RCV003920857, REVEL 0.22, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not provided
- V33L (p.Val33Leu), ExAC rs770998224, TOPMed rs770998224, gnomAD rs770998224, REVEL 0.12, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- Y34C (p.Tyr34Cys), TOPMed rs1002345695, gnomAD rs1002345695, REVEL 0.78, ESM-1b 1.00
- Y34H (p.Tyr34His), gnomAD rs1213479161, REVEL 0.74, ESM-1b 1.00
- L35V (p.Leu35Val), TOPMed rs1489239938, gnomAD rs1489239938, ESM-1b 1.00, AlphaMissense 0.21
- L36F (p.Leu36Phe), rs2507962931, ClinGen CA397128028, ClinVar RCV003134863, REVEL 0.36, ESM-1b 0.70, Uncertain significance, not provided
- L36H (p.Leu36His), rs1392963591, ClinGen CA397128024, ClinVar RCV004503555, ESM-1b 1.00, AlphaMissense 0.72, Uncertain significance, Inborn genetic diseases
- L36P (p.Leu36Pro), TOPMed rs1392963591, gnomAD rs1392963591, REVEL 0.62, ESM-1b 1.00
- L41Q (p.Leu41Gln), TOPMed rs1357430753, gnomAD rs1357430753, REVEL 0.56, ESM-1b 1.00
- P42L (p.Pro42Leu), TOPMed rs981032101, REVEL 0.62, ESM-1b 1.00
- P42S (p.Pro42Ser), gnomAD rs1333044023, REVEL 0.61, ESM-1b 1.00
- W43C (p.Trp43Cys), gnomAD rs1361614570, REVEL 0.51, ESM-1b 1.00, Uncertain significance, not provided; Inborn genetic diseases
- W43R (p.Trp43Arg), TOPMed rs1906265797, REVEL 0.61, ESM-1b 1.00
- F44I (p.Phe44Ile), rs1046616013, ClinGen CA286454566, ClinVar RCV003728816, TOPMed rs1046616013, REVEL 0.06, ESM-1b 0.00, Uncertain significance, not provided
- P45L (p.Pro45Leu), TOPMed rs918112054, gnomAD rs918112054, REVEL 0.14, ESM-1b 0.00, Uncertain significance, not provided
- P45S (p.Pro45Ser), gnomAD rs1402344272, REVEL 0.08, ESM-1b 0.00
- G46R (p.Gly46Arg), TOPMed rs866838504, gnomAD rs866838504, REVEL 0.45, ESM-1b 0.00, Likely pathogenic
- G46S (p.Gly46Ser), TOPMed rs866838504, gnomAD rs866838504, REVEL 0.40, ESM-1b 0.00, Conflicting interpretations, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or p
- P47L (p.Pro47Leu), ExAC rs772183217, TOPMed rs772183217, gnomAD rs772183217, REVEL 0.51, ESM-1b 0.00, Uncertain significance
- P47R (p.Pro47Arg), rs772183217, ClinGen CA397127875, ClinVar RCV003214379, ExAC rs772183217, ESM-1b 0.00, AlphaMissense 0.32, Uncertain significance, Inborn genetic diseases
- T48I (p.Thr48Ile), TOPMed rs1906264366, REVEL 0.08, ESM-1b 0.00
- T48P (p.Thr48Pro), gnomAD rs1906264473, REVEL 0.08, ESM-1b 0.00
- R49* (p.Arg49Ter), rs1166469802, ClinGen CA397127854, ClinVar RCV002637435, TOPMed rs1166469802, CADD 38.00, Pathogenic
- R49G (p.Arg49Gly), TOPMed rs1166469802, gnomAD rs1166469802, REVEL 0.14, ESM-1b 0.00, Pathogenic
- R49L (p.Arg49Leu), 1000Genomes rs779186692, ExAC rs779186692, TOPMed rs779186692, gnomAD rs779186692, REVEL 0.08, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- R49Q (p.Arg49Gln), rs779186692, ClinGen CA286454524, ClinVar RCV001812971, ClinVar RCV002541774, REVEL 0.09, ESM-1b 0.00, Conflicting interpretations, not provided; Inborn genetic diseases
- C50F (p.Cys50Phe), TOPMed rs1190557735, gnomAD rs1190557735, REVEL 0.10, ESM-1b 0.00
- C50R (p.Cys50Arg), TOPMed rs1906263798, REVEL 0.08, ESM-1b 0.00, Likely benign, Inborn genetic diseases
- G51D (p.Gly51Asp), gnomAD rs1478741696, REVEL 0.11, ESM-1b 0.00
- G51S (p.Gly51Ser), 1000Genomes rs866172473, TOPMed rs866172473, gnomAD rs866172473, REVEL 0.03, ESM-1b 0.00, Likely benign, Inborn genetic diseases
- L52F (p.Leu52Phe), Ensembl rs2142863092, ESM-1b 0.00, AlphaMissense 0.11
- L52H (p.Leu52His), Ensembl rs2142863090, ESM-1b 0.00, AlphaMissense 0.20
- G54S (p.Gly54Ser), TOPMed rs1906263049, REVEL 0.49, ESM-1b 0.00
- G54V (p.Gly54Val), rs2507939414, ClinGen CA397125329, ClinVar RCV002742965, REVEL 0.64, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- H55D (p.His55Asp), gnomAD rs1235654061, REVEL 0.47, ESM-1b 0.00
- H55N (p.His55Asn), gnomAD rs1235654061, REVEL 0.34, ESM-1b 0.00
- H55Q (p.His55Gln), TOPMed rs1905742526, gnomAD rs1905742526, REVEL 0.28, ESM-1b 0.00
- T56A (p.Thr56Ala), ExAC rs758308856, TOPMed rs758308856, gnomAD rs758308856, REVEL 0.15, ESM-1b 0.00, Uncertain significance
- T56I (p.Thr56Ile), rs1308833107, ClinGen CA397125303, ClinVar RCV003352186, TOPMed rs1308833107, REVEL 0.37, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- T56P (p.Thr56Pro), rs758308856, ClinGen CA8233332, ClinVar RCV002978059, ExAC rs758308856, REVEL 0.45, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- T56R (p.Thr56Arg), TOPMed rs1308833107, gnomAD rs1308833107, REVEL 0.50, ESM-1b 0.00, Uncertain significance
- G57D (p.Gly57Asp), gnomAD rs1444955142, REVEL 0.36, ESM-1b 0.00
- G57S (p.Gly57Ser), TOPMed rs939521859, REVEL 0.18, ESM-1b 0.00
- R58C (p.Arg58Cys), rs778920824, ClinGen CA8233330, ClinVar RCV003546206, ClinVar RCV004369091, REVEL 0.33, ESM-1b 0.61, Conflicting interpretations, Inborn genetic diseases; not provided; Lymphatic malformation 6
- R58G (p.Arg58Gly), ExAC rs778920824, TOPMed rs778920824, gnomAD rs778920824, REVEL 0.33, ESM-1b 0.00, Uncertain significance, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or p
- R58H (p.Arg58His), Ensembl rs1905740975, REVEL 0.32, ESM-1b 0.04
- R58S (p.Arg58Ser), ExAC rs778920824, TOPMed rs778920824, gnomAD rs778920824, REVEL 0.04, ESM-1b 0.00, Benign
- L59H (p.Leu59His), NCI-TCGA TCGA novel, ESM-1b 1.00, AlphaMissense 0.54, Variant assessed as somatic; moderate impact.
- L59P (p.Leu59Pro), rs2507939314, ClinGen CA397125273, ClinVar RCV002954789, ESM-1b 0.00, AlphaMissense 0.54, Uncertain significance, Inborn genetic diseases
- L59V (p.Leu59Val), gnomAD rs1330138523, REVEL 0.19, ESM-1b 0.00
- L60M (p.Leu60Met), TOPMed rs1822542715, gnomAD rs1822542715, REVEL 0.24, ESM-1b 1.00
- R61W (p.Arg61Trp), rs755174284, ExAC rs755174284, TOPMed rs755174284, gnomAD rs755174284, REVEL 0.24, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- A62S (p.Ala62Ser), gnomAD rs1905740231, REVEL 0.33, ESM-1b 0.00
- A62V (p.Ala62Val), TOPMed rs1905740091, REVEL 0.19, ESM-1b 0.00
- L64P (p.Leu64Pro), TOPMed rs1394166772, gnomAD rs1394166772, REVEL 0.59, ESM-1b 1.00
- L64V (p.Leu64Val), ExAC rs754121849, TOPMed rs754121849, gnomAD rs754121849, REVEL 0.15, ESM-1b 0.00, Likely benign
- L66V (p.Leu66Val), TOPMed rs1395256792, gnomAD rs1395256792, REVEL 0.08, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- S67R (p.Ser67Arg), TOPMed rs1905738845, ESM-1b 1.00, AlphaMissense 0.99
- S67T (p.Ser67Thr), gnomAD rs1177637892, REVEL 0.51, ESM-1b 0.00
- L69F (p.Leu69Phe), gnomAD rs1337068385, REVEL 0.13, ESM-1b 0.29
- L69V (p.Leu69Val), gnomAD rs1337068385, REVEL 0.07, ESM-1b 0.00
- F70L (p.Phe70Leu), TOPMed rs1471089115, gnomAD rs1471089115, REVEL 0.36, ESM-1b 0.00
- V72L (p.Val72Leu), gnomAD rs1441814815, REVEL 0.03, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- H74L (p.His74Leu), gnomAD rs1276456322, REVEL 0.48, ESM-1b 1.00
- H74Y (p.His74Tyr), gnomAD rs1905737307, REVEL 0.44, ESM-1b 1.00
- A76T (p.Ala76Thr), rs1213053249, ClinGen CA397125090, ClinVar RCV003134882, TOPMed rs1213053249, REVEL 0.09, ESM-1b 0.00, Uncertain significance, not provided
- A76V (p.Ala76Val), gnomAD rs1348707567, REVEL 0.06, ESM-1b 0.00
- I79V (p.Ile79Val), TOPMed rs1905736296, ESM-1b 0.00, AlphaMissense 0.16
- C80Y (p.Cys80Tyr), gnomAD rs1375965350, REVEL 0.21, ESM-1b 0.00
- L81M (p.Leu81Met), NCI-TCGA TCGA novel, ESM-1b 1.00, AlphaMissense 0.30, Variant assessed as somatic; moderate impact.
- L81P (p.Leu81Pro), gnomAD rs537591043, REVEL 0.67, ESM-1b 0.86
- H82R (p.His82Arg), rs377204641, ClinGen CA286442467, ClinVar RCV003131933, TOPMed rs377204641, REVEL 0.18, ESM-1b 0.00, Uncertain significance, not provided
- I83N (p.Ile83Asn), 1000Genomes rs6500495, ESP rs6500495, ExAC rs6500495, TOPMed rs6500495, REVEL 0.18, ESM-1b 0.00, Benign
- I83S (p.Ile83Ser), 1000Genomes rs6500495, ESP rs6500495, ExAC rs6500495, TOPMed rs6500495, REVEL 0.16, ESM-1b 0.00, Benign
- I83T (p.Ile83Thr), rs6500495, ClinGen CA8233323, ClinVar RCV001712570, ClinVar RCV001788258, REVEL 0.14, ESM-1b 0.00, Benign, not provided; Lymphatic malformation 6; not specified
- V84A (p.Val84Ala), gnomAD rs1375524053, REVEL 0.11, ESM-1b 0.00
- V84M (p.Val84Met), Ensembl rs1905734909, REVEL 0.04, ESM-1b 0.00
- P85A (p.Pro85Ala), ExAC rs775050594, TOPMed rs775050594, gnomAD rs775050594, REVEL 0.54, ESM-1b 0.11, Uncertain significance, Inborn genetic diseases
- P85R (p.Pro85Arg), Ensembl rs1905734423, REVEL 0.46, ESM-1b 0.73, Uncertain significance, Inborn genetic diseases
- P85S (p.Pro85Ser), rs775050594, ClinGen CA286442449, ClinVar RCV003488221, ExAC rs775050594, REVEL 0.49, ESM-1b 0.00, Uncertain significance, not provided
- R86C (p.Arg86Cys), rs1043456779, NCI-TCGA Cosmic COSV5633, TOPMed rs1043456779, gnomAD rs1043456779, REVEL 0.09, ESM-1b 0.00, Conflicting interpretations, not provided; Inborn genetic diseases
- R86G (p.Arg86Gly), TOPMed rs1043456779, gnomAD rs1043456779, REVEL 0.12, ESM-1b 0.00, Uncertain significance
- R86H (p.Arg86His), rs764666122, ClinGen CA397124930, ClinVar RCV003544822, ExAC rs764666122, REVEL 0.07, ESM-1b 0.00, Benign, not provided
- R86P (p.Arg86Pro), ExAC rs764666122, TOPMed rs764666122, gnomAD rs764666122, REVEL 0.07, ESM-1b 0.00, Benign
- D88E (p.Asp88Glu), TOPMed rs1905733665, ESM-1b 0.00, AlphaMissense 0.22
- D88G (p.Asp88Gly), rs141202337, ClinGen CA8233320, ClinVar RCV000957491, 1000Genomes rs141202337, REVEL 0.07, ESM-1b 0.00, Benign/Likely benign, not provided
- L90F (p.Leu90Phe), TOPMed rs1235608965, gnomAD rs1235608965, REVEL 0.07, ESM-1b 0.21
- G92R (p.Gly92Arg), TOPMed rs1905732803, REVEL 0.18, ESM-1b 0.00, Uncertain significance, not provided
- P93H (p.Pro93His), gnomAD rs1214697607, REVEL 0.09, ESM-1b 0.00
- P93L (p.Pro93Leu), NCI-TCGA TCGA novel, REVEL 0.11, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- P93S (p.Pro93Ser), ExAC rs770619345, gnomAD rs770619345, REVEL 0.05, ESM-1b 0.00
- S94R (p.Ser94Arg), gnomAD rs1318995975, REVEL 0.07, ESM-1b 0.00
- R97C (p.Arg97Cys), ExAC rs767828494, TOPMed rs767828494, gnomAD rs767828494, REVEL 0.09, ESM-1b 0.00, Uncertain significance, not provided; Inborn genetic diseases
- R97G (p.Arg97Gly), rs767828494, ClinGen CA397124158, ClinVar RCV002929754, ExAC rs767828494, REVEL 0.02, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- R97H (p.Arg97His), 1000Genomes rs575964090, TOPMed rs575964090, gnomAD rs575964090, REVEL 0.09, ESM-1b 0.00, Uncertain significance, not provided
- R97L (p.Arg97Leu), 1000Genomes rs575964090, TOPMed rs575964090, gnomAD rs575964090, REVEL 0.12, ESM-1b 0.00, Uncertain significance
- R97S (p.Arg97Ser), ExAC rs767828494, TOPMed rs767828494, gnomAD rs767828494, REVEL 0.04, ESM-1b 0.00, Uncertain significance
- E99Q (p.Glu99Gln), TOPMed rs1015238919, gnomAD rs1015238919, REVEL 0.12, ESM-1b 0.00
- T100I (p.Thr100Ile), ExAC rs757724495, TOPMed rs757724495, gnomAD rs757724495, REVEL 0.12, ESM-1b 0.00
- T100N (p.Thr100Asn), ExAC rs757724495, TOPMed rs757724495, gnomAD rs757724495, REVEL 0.09, ESM-1b 0.00
- L101V (p.Leu101Val), Ensembl rs1905715359, REVEL 0.12, ESM-1b 0.00
- S102L (p.Ser102Leu), rs752012401, ClinGen CA8233304, ClinVar RCV003419498, ExAC rs752012401, REVEL 0.28, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not provided
- S102W (p.Ser102Trp), ExAC rs752012401, TOPMed rs752012401, gnomAD rs752012401, REVEL 0.33, ESM-1b 0.00, Likely benign
- R103* (p.Arg103Ter), rs759026521, ClinGen CA397124081, ClinVar RCV001849890, ExAC rs759026521, CADD 35.00, Pathogenic
- R103G (p.Arg103Gly), rs759026521, ClinGen CA397124083, ClinVar RCV003722035, ExAC rs759026521, REVEL 0.19, ESM-1b 0.09, Likely benign, not provided
- R103Q (p.Arg103Gln), rs951851993, ClinGen CA286442080, ClinVar RCV003488242, TOPMed rs951851993, REVEL 0.11, ESM-1b 0.00, Conflicting interpretations, not provided
- H104Y (p.His104Tyr), gnomAD rs1255165271, REVEL 0.11, ESM-1b 0.00
- I105T (p.Ile105Thr), TOPMed rs1905714076, REVEL 0.38, ESM-1b 0.00
- I105V (p.Ile105Val), TOPMed rs1051839069, gnomAD rs1051839069, REVEL 0.20, ESM-1b 0.00
- G106E (p.Gly106Glu), gnomAD rs1457610667, REVEL 0.69, ESM-1b 1.00
- V107G (p.Val107Gly), Ensembl rs1597465259, REVEL 0.43, ESM-1b 1.00
- V107I (p.Val107Ile), TOPMed rs1207326343, gnomAD rs1207326343, REVEL 0.04, ESM-1b 0.00
- T108K (p.Thr108Lys), TOPMed rs1415633070, ESM-1b 0.00, AlphaMissense 0.48, Uncertain significance, not provided
- T108R (p.Thr108Arg), TOPMed rs1415633070, REVEL 0.45, ESM-1b 0.00, Uncertain significance
- R109G (p.Arg109Gly), gnomAD rs1456516604, REVEL 0.63, ESM-1b 0.00
- R109K (p.Arg109Lys), TOPMed rs1011912291, gnomAD rs1011912291, REVEL 0.33, ESM-1b 0.00
- R109S (p.Arg109Ser), rs918189223, ClinGen CA286441416, ClinVar RCV004503584, gnomAD rs918189223, REVEL 0.56, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- L110Q (p.Leu110Gln), gnomAD rs1392954300, REVEL 0.74, ESM-1b 1.00
- L110V (p.Leu110Val), rs1056798384, ClinGen CA286441392, ClinVar RCV002724255, ClinVar RCV003135229, REVEL 0.51, ESM-1b 0.00, Uncertain significance, not provided; Inborn genetic diseases
- L112P (p.Leu112Pro), rs1201502287, ClinGen CA397124005, ClinVar RCV001508796, TOPMed rs1201502287, REVEL 0.62, ESM-1b 0.00, Uncertain significance, not provided
- L112V (p.Leu112Val), TOPMed rs938373330, gnomAD rs938373330, REVEL 0.39, ESM-1b 0.00, Uncertain significance, not provided
- K113N (p.Lys113Asn), NCI-TCGA TCGA novel, REVEL 0.06, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- D114E (p.Asp114Glu), gnomAD rs1412945837, REVEL 0.17, ESM-1b 0.00
- N117H (p.Asn117His), TOPMed rs1905664493, REVEL 0.38, ESM-1b 0.00
- N117I (p.Asn117Ile), TOPMed rs1174487457, gnomAD rs1174487457, REVEL 0.15, ESM-1b 1.00
- N117K (p.Asn117Lys), ExAC rs757593385, TOPMed rs757593385, gnomAD rs757593385, REVEL 0.26, ESM-1b 0.44, Uncertain significance, Inborn genetic diseases
- N117S (p.Asn117Ser), TOPMed rs1174487457, gnomAD rs1174487457, REVEL 0.06, ESM-1b 0.00
- A118G (p.Ala118Gly), rs1161679299, ClinGen CA397123964, ClinVar RCV003399639, ClinVar RCV004961274, REVEL 0.18, ESM-1b 0.00, Uncertain significance, PIEZO1-related disorder; Inborn genetic diseases
- A118T (p.Ala118Thr), rs752004128, ClinGen CA8233287, ClinVar RCV005232032, ClinVar RCV005702378, REVEL 0.12, ESM-1b 0.00, Conflicting interpretations, not provided; Inborn genetic diseases
- I119L (p.Ile119Leu), rs984135890, ClinGen CA286441364, ClinVar RCV003220293, ClinVar RCV005636868, REVEL 0.15, ESM-1b 0.00, Uncertain significance, not provided; Inborn genetic diseases
- I119M (p.Ile119Met), TOPMed rs1255996250, gnomAD rs1255996250, REVEL 0.12, ESM-1b 0.00
- I119S (p.Ile119Ser), gnomAD rs1323211441, REVEL 0.32, ESM-1b 0.00
- R120Q (p.Arg120Gln), rs1180628646, ClinGen CA397123953, ClinVar RCV003488216, TOPMed rs1180628646, REVEL 0.45, ESM-1b 0.88, Conflicting interpretations, not provided
- R120W (p.Arg120Trp), rs778223284, ClinGen CA397123954, ClinVar RCV004503589, ClinVar RCV005065164, REVEL 0.57, ESM-1b 0.69, Conflicting interpretations, not provided; Inborn genetic diseases
- L121M (p.Leu121Met), gnomAD rs1259073810, REVEL 0.33, ESM-1b 0.04
- V122A (p.Val122Ala), TOPMed rs930593950, gnomAD rs930593950, REVEL 0.51, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
Public PIEZO1 analysis runs
- PIEZO1 analysis run — PIEZO1 (4,518 variants) — completed 2026-05-15