L137R (p.Leu137Arg) variant of HBA1 (Hemoglobin subunit alpha)
L137R (p.Leu137Arg) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of Heinz body anemia; HEMOGLOBIN TOYAMA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
L137R (p.Leu137Arg) variant details
- p.Leu137Arg
- rs41469945
- UniProt VAR 035242
- Ensembl rs41469945
- Pathogenic; other
- Heinz body anemia; HEMOGLOBIN TOYAMA
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.03
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic; other (Heinz body anemia; HEMOGLOBIN TOYAMA)
- EBI: Pathogenic (in Toyama)
- UniProt: Pathogenic (in Toyama)
- Structural context available
- Cited in: Hyperunstable hemoglobin Toyama [alpha 2 136(H19)Leu----Arg beta 2]: detection and identification by in vitro… (PMID 2833478)