A34V (p.Ala34Val) variant of HADHB (P55084)
A34V (p.Ala34Val) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- gnomAD 2-26254466-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.32
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available