S15T (p.Ser15Thr) variant of HADHB (P55084)
S15T (p.Ser15Thr) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S15T (p.Ser15Thr) variant details
- p.Ser15Thr
- gnomAD 2-26254297-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.24
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available