L19R (p.Leu19Arg) variant of HADHB (P55084)
L19R (p.Leu19Arg) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L19R (p.Leu19Arg) variant details
- p.Leu19Arg
- gnomAD 2-26254310-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.59
- CADD 23.20
- PolyPhen-2 0.10
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available