G782S (p.Gly782Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
G782S (p.Gly782Ser) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Lymphatic malformation 6; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G782S (p.Gly782Ser) variant details
- p.Gly782Ser
- rs200970763
- ClinGen CA082796
- ClinVar RCV000049238
- ClinVar RCV000756474
- Conflicting interpretations
- Lymphatic malformation 6; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 24.00
- PolyPhen-2 0.92
- SIFT 0.26
- ClinVar: Conflicting classifications of pathogenicity (Lymphatic malformation 6; not specified; not provided)
- EBI: Pathogenic (in DHS1)
- UniProt: Pathogenic (in DHS1)
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Cited in: Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24. (PMID 11001917)
- Cited in: Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. (PMID 23479567)