P59A (p.Pro59Ala) variant of HBD (Hemoglobin subunit delta)
P59A (p.Pro59Ala) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P59A (p.Pro59Ala) variant details
- p.Pro59Ala
- gnomAD 11-5234131-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.53
- MetaSVM -0.45
- CADD 0.18
- Population evidence available
- Structural context available
- Literature evidence available