Y6C (p.Tyr6Cys) variant of HADHB (P55084)
Y6C (p.Tyr6Cys) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Y6C (p.Tyr6Cys) variant details
- p.Tyr6Cys
- gnomAD 2-26254271-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.22
- CADD 7.27
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available