R206P (p.Arg206Pro) variant of MMACHC (Q9Y4U1)
R206P (p.Arg206Pro) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R206P (p.Arg206Pro) variant details
- p.Arg206Pro
- rs371753672
- ClinGen CA340133696
- ClinVar RCV000674571
- UniProt VAR 024782
- Conflicting interpretations
- not provided; Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cobalamin C disease)
- EBI: Pathogenic (in MAHCC)
- UniProt: Pathogenic (in MAHCC)
- Population evidence available
- Structural context available
- Cited in: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. (PMID 16311595)
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)