A2V (p.Ala2Val) variant of PIEZO2 (Q9H5I5)
A2V (p.Ala2Val) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD rs939737622
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.82
- MetaLR 0.38
- MetaSVM -0.33
- CADD 29.20
- Structural context available