K9Q (p.Lys9Gln) variant of HBB (Hemoglobin subunit beta)
K9Q (p.Lys9Gln) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN J (LUHE). The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
K9Q (p.Lys9Gln) variant details
- p.Lys9Gln
- rs33926764
- ClinGen CA124959
- ClinVar RCV000016422
- UniProt VAR 002869
- other
- HEMOGLOBIN J (LUHE)
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- ESM-1b 1.00
- AlphaMissense 0.30
- ClinVar: other (HEMOGLOBIN J (LUHE))
- EBI: Pathogenic (in J-Luhe)
- UniProt: Pathogenic (in J-Luhe)
- Structural context available
- Cited in: A novel -32 (C-A) mutant identified in amplified genomic DNA of a Chinese beta-thalassemic patient. (PMID 1729892)