A21G (p.Ala21Gly) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
A21G (p.Ala21Gly) 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 0.42 / 1. The record also includes population frequency data and structural context.
A21G (p.Ala21Gly) variant details
- p.Ala21Gly
- gnomAD rs1452825069
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.35
- MetaSVM -0.43
- CADD 23.20
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available