K9M (p.Lys9Met) variant of HBB (Hemoglobin subunit beta)
K9M (p.Lys9Met) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar and UniProt describe it as other in the context of HEMOGLOBIN NAKANO. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
K9M (p.Lys9Met) variant details
- p.Lys9Met
- rs33932981
- ClinGen CA125428
- ClinVar RCV000016814
- Ensembl rs33932981
- other
- HEMOGLOBIN NAKANO
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- ESM-1b 1.00
- AlphaMissense 0.55
- ClinVar: other (HEMOGLOBIN NAKANO)
- UniProt: Other (in Rio Grande)
- Structural context available
- Cited in: Hb Nakano [beta 8(Lys-->Met]: a new beta chain variant found in a Japanese woman. (PMID 8718698)