E24V (p.Glu24Val) variant of HBA1 (Hemoglobin subunit alpha)
E24V (p.Glu24Val) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar and UniProt describe it as other in the context of HEMOGLOBIN G (AUDHALI). The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E24V (p.Glu24Val) variant details
- p.Glu24Val
- Ensembl rs281864820
- other
- HEMOGLOBIN G (AUDHALI)
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.52
- MetaLR 0.56
- MetaSVM -0.30
- CADD 10.70
- PolyPhen-2 0.02
- SIFT 0.35
- ClinVar: other (HEMOGLOBIN G (AUDHALI))
- UniProt: Other (in Chad)
- Population evidence available
- Structural context available
- Cited in: New human haemoglobin variant from southern Arabia: G-Audhali (alpha-23(B4) glutamic acid--valine) and the variability… (PMID 5675638)