L4F (p.Leu4Phe) variant of HADHB (P55084)
L4F (p.Leu4Phe) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- gnomAD 2-26254266-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.35
- CADD 23.70
- PolyPhen-2 0.26
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available