S45C (p.Ser45Cys) variant of HBD (Hemoglobin subunit delta)
S45C (p.Ser45Cys) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S45C (p.Ser45Cys) variant details
- p.Ser45Cys
- rs142519583
- gnomAD 11-5233090-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 4.72
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available