S22S (p.Ser22Ser) variant of HADHB (P55084)
S22S (p.Ser22Ser) in HADHB (P55084) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S22S (p.Ser22Ser) variant details
- p.Ser22Ser
- gnomAD 2-26254431-C-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.189
- CADD 4.31
- Population evidence available
- Structural context available
- Literature evidence available