K9E (p.Lys9Glu) variant of HBB (Hemoglobin subunit beta)
K9E (p.Lys9Glu) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
K9E (p.Lys9Glu) variant details
- p.Lys9Glu
- rs33926764
- ClinGen CA125050
- ClinVar RCV000016511
- ClinVar RCV001269803
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- ESM-1b 1.00
- AlphaMissense 0.63
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in N-Timone)
- UniProt: Pathogenic (in N-Timone)
- Structural context available
- Cited in: Hb N-Timone [alpha 2 beta 2(8)(A5)Lys----Glu]: a new fast-moving variant with normal stability and oxygen affinity. (PMID 2634671)