Q31S (p.Gln31Ser) variant of HADHB (P55084)
Q31S (p.Gln31Ser) in HADHB (P55084) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q31S (p.Gln31Ser) variant details
- p.Gln31Ser
- gnomAD 2-26254453-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 25.80
- Population evidence available
- Structural context available
- Literature evidence available