A22V (p.Ala22Val) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
A22V (p.Ala22Val) 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 0.60 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- ExAC rs762733409
- gnomAD rs762733409
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.44
- ESM-1b 1.00
- AlphaMissense 0.72
- MetaLR 0.53
- MetaSVM 0.06
- CADD 29.70
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available