A18V (p.Ala18Val) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
A18V (p.Ala18Val) 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.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- gnomAD rs1474552001
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.10
- MetaSVM -1.01
- CADD 13.00
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available