V68M (p.Val68Met) variant of HBB (Hemoglobin subunit beta)
V68M (p.Val68Met) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hemoglobinopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
V68M (p.Val68Met) variant details
- p.Val68Met
- rs36008922
- ClinGen CA124768
- ClinVar RCV000016276
- ClinVar RCV000016801
- Pathogenic
- Hemoglobinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.989
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Pathogenic (Hemoglobinopathy; not provided)
- EBI: Pathogenic (in Alesha)
- UniProt: Pathogenic (in Alesha)
- Structural context available
- Cited in: Hemoglobin Bristol or beta 67(E11) Val----Asp in Japan. (PMID 3997544)
- Cited in: Idiopathic Heinz body anaemia: Hb-Bristol (beta67 (E11) Val to Asp). (PMID 5420592)