Y6S (p.Tyr6Ser) variant of HADHB (P55084)
Y6S (p.Tyr6Ser) in HADHB (P55084) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Y6S (p.Tyr6Ser) variant details
- p.Tyr6Ser
- gnomAD 2-26254270-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 14.10
- Population evidence available
- Structural context available
- Literature evidence available