A22S (p.Ala22Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
A22S (p.Ala22Ser) 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 0.48 / 1. The record also includes population frequency data and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- ExAC rs769822489
- TOPMed rs769822489
- gnomAD rs769822489
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.45
- ESM-1b 0.34
- AlphaMissense 0.20
- MetaLR 0.44
- MetaSVM -0.30
- CADD 25.40
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available