A62S (p.Ala62Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
A62S (p.Ala62Ser) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes structural context.
A62S (p.Ala62Ser) variant details
- p.Ala62Ser
- gnomAD rs1905740231
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.37
- MetaSVM -0.29
- SIFT 0.03
- Structural context available