N109K (p.Asn109Lys) variant of HBB (Hemoglobin subunit beta)
N109K (p.Asn109Lys) 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 beta Thalassemia; Malaria, susceptibility to; METHEMOGLOBINEMIA, BETA TYPE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
N109K (p.Asn109Lys) variant details
- p.Asn109Lys
- rs34933751
- ExAC rs34933751
- TOPMed rs34933751
- gnomAD rs34933751
- Likely pathogenic
- beta Thalassemia; Malaria, susceptibility to; METHEMOGLOBINEMIA, BETA TYPE
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- ESM-1b 1.00
- AlphaMissense 0.88
- ClinVar: Likely pathogenic (Hemoglobinopathy)
- EBI: Likely pathogenic (in Presbyterian)
- UniProt: Likely pathogenic (in Presbyterian)
- Structural context available
- Cited in: Model mice for Presbyterian hemoglobinopathy (Asn(beta108)-->Lys) confer hemolytic anemia with altered oxygen affinity… (PMID 12127975)
- Cited in: Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level. (PMID 2307460)