P5H (p.Pro5His) variant of HBA1 (Hemoglobin subunit alpha)
P5H (p.Pro5His) in HBA1 (Hemoglobin subunit alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P5H (p.Pro5His) variant details
- p.Pro5His
- Ensembl rs63750946
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.46
- MetaLR 0.62
- MetaSVM 0.03
- CADD 16.10
- PolyPhen-2 0.20
- SIFT 0.03
- Population evidence available
- Structural context available