A35V (p.Ala35Val) variant of HADHB (P55084)
A35V (p.Ala35Val) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A35V (p.Ala35Val) variant details
- p.Ala35Val
- Ensembl rs1213140579
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.34
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available