G60R (p.Gly60Arg) variant of HBA1 (Hemoglobin subunit alpha)
G60R (p.Gly60Arg) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; alpha Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G60R (p.Gly60Arg) variant details
- p.Gly60Arg
- rs281864895
- ClinGen CA393995220
- ClinVar RCV001283978
- ClinVar RCV003331101
- Pathogenic/Likely pathogenic
- not provided; alpha Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.93
- MetaLR 0.94
- MetaSVM 1.10
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; alpha Thalassemia)
- EBI: Pathogenic (in Tottori)
- UniProt: Pathogenic (in Tottori)
- Most common in the South Asian population (allele frequency 9.9e-05)
- Structural context available
- Cited in: A new highly unstable alpha chain variant causing alpha(+)-thalassemia: Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg… (PMID 15658192)
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)