G46S (p.Gly46Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
G46S (p.Gly46Ser) 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 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G46S (p.Gly46Ser) variant details
- p.Gly46Ser
- TOPMed rs866838504
- gnomAD rs866838504
- Conflicting interpretations
- Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or p
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.35
- MetaSVM -0.58
- CADD 22.50
- ClinVar: Conflicting classifications of pathogenicity (Dehydrated hereditary stomatocytosis with or without pseudohyper)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available