L19H (p.Leu19His) variant of HADHB (P55084)
L19H (p.Leu19His) 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.
L19H (p.Leu19His) variant details
- p.Leu19His
- gnomAD 2-26254310-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.50
- CADD 23.20
- PolyPhen-2 0.32
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available