V2E (p.Val2Glu) variant of HBA1 (Hemoglobin subunit alpha)
V2E (p.Val2Glu) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN THIONVILLE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
V2E (p.Val2Glu) variant details
- p.Val2Glu
- rs33981821
- UniProt VAR 002719
- Ensembl rs33981821
- other
- HEMOGLOBIN THIONVILLE
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- AlphaMissense 0.36
- MetaLR 0.63
- MetaSVM 0.08
- SIFT 0.00
- MutPred 0.84
- ClinVar: other (HEMOGLOBIN THIONVILLE)
- EBI: Benign (in Thionville)
- UniProt: Benign (in Thionville)
- Structural context available
- Cited in: Hemoglobin Thionville. An alpha-chain variant with a substitution of a glutamate for valine at NA-1 and having an… (PMID 1618774)