R206Q (p.Arg206Gln) variant of MMACHC (Q9Y4U1)
R206Q (p.Arg206Gln) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R206Q (p.Arg206Gln) variant details
- p.Arg206Gln
- rs371753672
- ClinGen CA827810
- ClinVar RCV001052682
- ClinVar RCV001508861
- Pathogenic/Likely pathogenic
- not provided; Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.97
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cobalamin C disease)
- EBI: Pathogenic (in MAHCC)
- UniProt: Pathogenic (in MAHCC)
- Population evidence available
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)