S15W (p.Ser15Trp) variant of HADHB (P55084)
S15W (p.Ser15Trp) in HADHB (P55084) is a protein-truncating 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.
S15W (p.Ser15Trp) variant details
- p.Ser15Trp
- gnomAD 2-26261030-GTT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 6.53
- Population evidence available
- Structural context available
- Literature evidence available