H151R (p.His151Arg) variant of MMACHC (Q9Y4U1)
H151R (p.His151Arg) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
H151R (p.His151Arg) variant details
- p.His151Arg
- rs764409631
- ClinGen CA827762
- ClinVar RCV003470147
- ExAC rs764409631
- Pathogenic/Likely pathogenic
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.92
- CADD 22.50
- PolyPhen-2 0.41
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Cobalamin C disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)