L4M (p.Leu4Met) variant of HADHB (P55084)
L4M (p.Leu4Met) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L4M (p.Leu4Met) variant details
- p.Leu4Met
- gnomAD 2-26254264-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.36
- CADD 22.80
- PolyPhen-2 0.67
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available