K83N (p.Lys83Asn) variant of HBB (Hemoglobin subunit beta)
K83N (p.Lys83Asn) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
K83N (p.Lys83Asn) variant details
- p.Lys83Asn
- rs33991993
- cosmic curated COSV58942
- gnomAD rs33991993
- ClinVar RCV000016559
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- ESM-1b 1.00
- AlphaMissense 0.95
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in Providence)
- UniProt: Pathogenic (in Providence)
- Structural context available
- Cited in: Postsynthetic deamidation of hemoglobin Providence (beta 82 Lys replaced by Asn, Asp) and its effect on oxygen… (PMID 14973)
- Cited in: Hemoglobin Raleigh (beta1 valine replaced by acetylalanine). Structural and functional characterization. (PMID 20942)