A34T (p.Ala34Thr) variant of HADHB (P55084)
A34T (p.Ala34Thr) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- gnomAD 2-26254465-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.17
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available