A21V (p.Ala21Val) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
A21V (p.Ala21Val) 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 population frequency data and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- gnomAD rs1452825069
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.35
- MetaLR 0.21
- MetaSVM -0.87
- CADD 20.50
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available