Y6F (p.Tyr6Phe) variant of HADHB (P55084)
Y6F (p.Tyr6Phe) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
Y6F (p.Tyr6Phe) variant details
- p.Tyr6Phe
- gnomAD 2-26254271-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.16
- CADD 1.16
- PolyPhen-2 0.01
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available