L3R (p.Leu3Arg) variant of HBA1 (Hemoglobin subunit alpha)
L3R (p.Leu3Arg) 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 CHONGQING. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
L3R (p.Leu3Arg) variant details
- p.Leu3Arg
- rs63750585
- ClinGen CA276414275
- ClinVar RCV003120183
- Ensembl rs63750585
- other
- HEMOGLOBIN CHONGQING
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 0.93
- MetaLR 0.91
- MetaSVM 1.00
- SIFT 0.01
- MutPred 0.50
- ClinVar: other (HEMOGLOBIN CHONGQING)
- EBI: Likely benign (in ChongQing)
- UniProt: Likely benign (in ChongQing)
- Structural context available
- Cited in: Hemoglobin Chongqing [alpha 2(NA2)Leu----Arg] and hemoglobin Harbin [alpha 16(A14)Lys----Met] found in China. (PMID 6526652)