A34D (p.Ala34Asp) variant of HADHB (P55084)
A34D (p.Ala34Asp) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A34D (p.Ala34Asp) variant details
- p.Ala34Asp
- gnomAD 2-26254466-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.36
- CADD 21.20
- PolyPhen-2 0.03
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available