Q128R (p.Gln128Arg) variant of HBB (Hemoglobin subunit beta)
Q128R (p.Gln128Arg) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of HEMOGLOBIN DIEPPE; beta Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
Q128R (p.Gln128Arg) variant details
- p.Gln128Arg
- rs33910569
- ClinGen CA125414
- ClinVar RCV000016802
- ClinVar RCV001078371
- Pathogenic; other
- HEMOGLOBIN DIEPPE; beta Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- ESM-1b 1.00
- AlphaMissense 0.84
- ClinVar: Pathogenic; other (HEMOGLOBIN DIEPPE; beta Thalassemia)
- EBI: Pathogenic (in Brest)
- UniProt: Pathogenic (in Brest)
- Structural context available
- Cited in: Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants. (PMID 1420507)
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)