P7H (p.Pro7His) variant of HADHB (P55084)
P7H (p.Pro7His) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P7H (p.Pro7His) variant details
- p.Pro7His
- gnomAD 2-26254274-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.30
- CADD 19.10
- PolyPhen-2 0.11
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available