L35R (p.Leu35Arg) variant of HBA1 (Hemoglobin subunit alpha)
L35R (p.Leu35Arg) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
L35R (p.Leu35Arg) variant details
- p.Leu35Arg
- rs35203445
- ClinGen CA125851
- ClinVar RCV000017133
- ClinVar RCV000017134
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- AlphaMissense 0.82
- MetaLR 0.64
- MetaSVM -0.17
- SIFT 0.02
- MutPred 0.44
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in Queens/Ogi)
- UniProt: Uncertain significance (in Queens/Ogi)
- Structural context available
- Cited in: Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg)… (PMID 2752146)
- Cited in: Decreased heat stability found in purified hemoglobin Queens [alpha 34(B15)Leu----Arg]. (PMID 3446653)