A35D (p.Ala35Asp) variant of HADHB (P55084)
A35D (p.Ala35Asp) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A35D (p.Ala35Asp) variant details
- p.Ala35Asp
- gnomAD 2-26254469-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.40
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available