A62V (p.Ala62Val) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
A62V (p.Ala62Val) 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 0.28 / 1. The record also includes population frequency data and structural context.
A62V (p.Ala62Val) variant details
- p.Ala62Val
- TOPMed rs1905740091
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.21
- MetaSVM -0.80
- CADD 22.10
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available