A76V (p.Ala76Val) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
A76V (p.Ala76Val) 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 0.15 / 1. The record also includes population frequency data and structural context.
A76V (p.Ala76Val) variant details
- p.Ala76Val
- gnomAD rs1348707567
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.14
- MetaSVM -0.99
- CADD 11.40
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available