Y6H (p.Tyr6His) variant of HADHB (P55084)
Y6H (p.Tyr6His) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Y6H (p.Tyr6His) variant details
- p.Tyr6His
- gnomAD 2-26254270-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.16
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available