S15P (p.Ser15Pro) variant of HADHB (P55084)
S15P (p.Ser15Pro) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S15P (p.Ser15Pro) variant details
- p.Ser15Pro
- gnomAD 2-26254297-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.42
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available