K12E (p.Lys12Glu) variant of HBA1 (Hemoglobin subunit alpha)
K12E (p.Lys12Glu) 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 ANANTHARAJ. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
K12E (p.Lys12Glu) variant details
- p.Lys12Glu
- rs33938574
- ClinGen CA125670
- ClinVar RCV000016989
- UniProt VAR 002729
- other
- HEMOGLOBIN ANANTHARAJ
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- AlphaMissense 0.12
- MetaLR 0.82
- MetaSVM 0.68
- SIFT 0.01
- MutPred 0.63
- ClinVar: other (HEMOGLOBIN ANANTHARAJ)
- EBI: Benign (in Anantharaj)
- UniProt: Benign (in Anantharaj)
- Structural context available
- Cited in: A new haemoglobin variant: haemoglobin Anantharaj alpha 11 (A9) lysine replaced by glutamic acid. (PMID 1174563)