L19F (p.Leu19Phe) variant of HADHB (P55084)
L19F (p.Leu19Phe) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- gnomAD 2-26254309-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.41
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available