F34V (p.Phe34Val) variant of HBA1 (Hemoglobin subunit alpha)
F34V (p.Phe34Val) in HBA1 (Hemoglobin subunit alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
F34V (p.Phe34Val) variant details
- p.Phe34Val
- Ensembl rs1902042464
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.87
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.40
- PolyPhen-2 0.87
- SIFT 0.01
- Population evidence available
- Structural context available