S22Y (p.Ser22Tyr) variant of HADHB (P55084)
S22Y (p.Ser22Tyr) 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.
S22Y (p.Ser22Tyr) variant details
- p.Ser22Tyr
- gnomAD 2-26254430-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.36
- CADD 13.30
- PolyPhen-2 0.04
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available