V38A (p.Val38Ala) variant of HADHB (P55084)
V38A (p.Val38Ala) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V38A (p.Val38Ala) variant details
- p.Val38Ala
- gnomAD 2-26261031-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 8.67
- Population evidence available
- Structural context available
- Literature evidence available