S50S (p.Ser50Ser) variant of HBD (Hemoglobin subunit delta)
S50S (p.Ser50Ser) in HBD (Hemoglobin subunit delta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S50S (p.Ser50Ser) variant details
- p.Ser50Ser
- gnomAD 11-5234156-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 9.13
- Population evidence available
- Structural context available
- Literature evidence available