L4S (p.Leu4Ser) variant of HADHB (P55084)
L4S (p.Leu4Ser) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L4S (p.Leu4Ser) variant details
- p.Leu4Ser
- gnomAD 2-26254265-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.46
- CADD 24.20
- PolyPhen-2 0.48
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available