L4V (p.Leu4Val) variant of HADHB (P55084)
L4V (p.Leu4Val) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- gnomAD 2-26261027-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 1.84
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available