K18E (p.Lys18Glu) variant of HBB (Hemoglobin subunit beta)
K18E (p.Lys18Glu) 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 NAGASAKI. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
K18E (p.Lys18Glu) variant details
- p.Lys18Glu
- rs33986703
- ClinGen CA217115373
- ClinVar RCV000016512
- UniProt VAR 002882
- other
- HEMOGLOBIN NAGASAKI
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- ESM-1b 1.00
- AlphaMissense 0.39
- ClinVar: other (HEMOGLOBIN NAGASAKI)
- EBI: Pathogenic (in Nagasaki)
- UniProt: Pathogenic (in Nagasaki)
- Structural context available
- Cited in: Hemoglobin Nagasaki (alpha 2-A beta 2-17Glu). A new abnormal human hemoglobin found in one family in Nagasaki.… (PMID 4950989)
- Cited in: Hb Nagasaki [beta 17 (A14)Lys-->Glu]: a second case found in a Japanese family. (PMID 9101287)