A20V (p.Ala20Val) variant of PIEZO2 (Q9H5I5)
A20V (p.Ala20Val) in PIEZO2 (Q9H5I5) 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, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- rs146400447
- gnomAD 18-10672695-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 8.10
- Population evidence available
- Structural context available
- Literature evidence available