L11I (p.Leu11Ile) variant of HADHB (P55084)
L11I (p.Leu11Ile) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L11I (p.Leu11Ile) variant details
- p.Leu11Ile
- gnomAD 2-26254285-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.29
- CADD 14.50
- PolyPhen-2 0.12
- SIFT 0.19
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available