S29Y (p.Ser29Tyr) variant of HADHB (P55084)
S29Y (p.Ser29Tyr) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S29Y (p.Ser29Tyr) variant details
- p.Ser29Tyr
- gnomAD 2-26254451-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.58
- CADD 22.30
- PolyPhen-2 0.08
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available