S50P (p.Ser50Pro) variant of HBD (Hemoglobin subunit delta)
S50P (p.Ser50Pro) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S50P (p.Ser50Pro) variant details
- p.Ser50Pro
- gnomAD 11-5234158-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.83
- ESM-1b 0.00
- AlphaMissense 0.75
- MetaLR 0.89
- MetaSVM 0.88
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available