K18Q (p.Lys18Gln) variant of HBB (Hemoglobin subunit beta)
K18Q (p.Lys18Gln) 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 NIKOSIA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
K18Q (p.Lys18Gln) variant details
- p.Lys18Gln
- rs33986703
- ClinGen CA217115378
- ClinVar RCV000016762
- UniProt VAR 002884
- other
- HEMOGLOBIN NIKOSIA
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- ESM-1b 1.00
- AlphaMissense 0.18
- ClinVar: other (HEMOGLOBIN NIKOSIA)
- EBI: Pathogenic (in Nikosia)
- UniProt: Pathogenic (in Nikosia)
- Structural context available
- Cited in: A new abnormal hemoglobin: Hb Mozhaisk beta 92(F8)His leads to Arg. (PMID 7096107)