K18* (p.Lys18Ter) variant of HBB (Hemoglobin subunit beta)
K18* (p.Lys18Ter) in HBB (Hemoglobin subunit beta) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in Nikosia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
K18* (p.Lys18Ter) variant details
- p.Lys18Ter
- rs33986703
- ClinGen CA125257
- ClinVar RCV000016655
- ClinVar RCV000020337
- Pathogenic
- in Nikosia
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 42.00
- EBI: Pathogenic (in Nikosia)
- UniProt: Pathogenic (in Nikosia)
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: Hb Siriraj: a G-->A substitution at codon 7 of the beta-globin chain creates an MboII cutting site. (PMID 10335989)
- Cited in: Human gene mutation database-a biomedical information and research resource. (PMID 10612821)