S50F (p.Ser50Phe) variant of HBD (Hemoglobin subunit delta)
S50F (p.Ser50Phe) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
S50F (p.Ser50Phe) variant details
- p.Ser50Phe
- gnomAD 11-5234157-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.61
- MetaLR 0.90
- MetaSVM 1.03
- CADD 26.10
- Population evidence available
- Structural context available
- Literature evidence available