L19P (p.Leu19Pro) variant of HADHB (P55084)
L19P (p.Leu19Pro) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- gnomAD 2-26254310-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.65
- CADD 23.30
- PolyPhen-2 0.13
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available