V6A (p.Val6Ala) variant of PIEZO2 (Q9H5I5)
V6A (p.Val6Ala) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V6A (p.Val6Ala) variant details
- p.Val6Ala
- gnomAD 18-10672713-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 6.62
- Population evidence available
- Structural context available
- Literature evidence available