K9N (p.Lys9Asn) variant of HBB (Hemoglobin subunit beta)
K9N (p.Lys9Asn) 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 LIMASSOL. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
K9N (p.Lys9Asn) variant details
- p.Lys9Asn
- rs35198910
- ClinGen CA125503
- cosmic curated COSV58942
- ClinVar RCV000016860
- other
- HEMOGLOBIN LIMASSOL
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- ESM-1b 1.00
- AlphaMissense 0.86
- ClinVar: other (HEMOGLOBIN LIMASSOL)
- EBI: Likely benign (in Rio Grande)
- UniProt: Likely benign (in Rio Grande)
- Structural context available
- Cited in: Hb Limassol [beta8(A5)Lys-->Asn]: a new hemoglobin variant. (PMID 11791876)