R61Q (p.Arg61Gln) variant of MMACHC (Q9Y4U1)
R61Q (p.Arg61Gln) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cobalamin C disease; See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R61Q (p.Arg61Gln) variant details
- p.Arg61Gln
- rs201777449
- ClinGen CA827662
- ClinVar RCV000641153
- ClinVar RCV002252187
- Uncertain significance
- Cobalamin C disease; See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.23
- CADD 0.28
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Uncertain significance (Cobalamin C disease; See cases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0014)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)