K9R (p.Lys9Arg) variant of HBB (Hemoglobin subunit beta)
K9R (p.Lys9Arg) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar and UniProt describe it as other in the context of HEMOGLOBIN LUCKNOW. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
K9R (p.Lys9Arg) variant details
- p.Lys9Arg
- rs33932981
- ClinGen CA125468
- ClinVar RCV000016839
- Ensembl rs33932981
- other
- HEMOGLOBIN LUCKNOW
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- ESM-1b 0.00
- AlphaMissense 0.12
- ClinVar: other (HEMOGLOBIN LUCKNOW)
- UniProt: Other (in Rio Grande)
- Structural context available
- Cited in: A novel Indian beta-thalassemia mutation: Hb Lucknow [beta8(A5)Lys-->Arg]]. (PMID 10490139)