A35V (p.Ala35Val) variant of PCDH19 (Protocadherin-19)
A35V (p.Ala35Val) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A35V (p.Ala35Val) variant details
- p.Ala35Val
- gnomAD rs1328655427
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.13
- CADD 24.40
- PolyPhen-2 0.79
- SIFT 0.12
- Population evidence available
- Structural context available