L19I (p.Leu19Ile) variant of HADHB (P55084)
L19I (p.Leu19Ile) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L19I (p.Leu19Ile) variant details
- p.Leu19Ile
- gnomAD 2-26254309-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.22
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available