A14V (p.Ala14Val) variant of HADHB (P55084)
A14V (p.Ala14Val) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- gnomAD 2-26254295-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.23
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available