P59R (p.Pro59Arg) variant of HBD (Hemoglobin subunit delta)
P59R (p.Pro59Arg) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P59R (p.Pro59Arg) variant details
- p.Pro59Arg
- rs757876158
- gnomAD 11-5232985-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.25
- CADD 2.66
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available