P46R (p.Pro46Arg) variant of MMACHC (Q9Y4U1)
P46R (p.Pro46Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P46R (p.Pro46Arg) variant details
- p.Pro46Arg
- rs2149323209
- ClinGen CA340131479
- ClinVar RCV001931148
- Ensembl rs2149323209
- Uncertain significance
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.41
- CADD 24.10
- PolyPhen-2 0.87
- SIFT 0.03
- ClinVar: Uncertain significance (Cobalamin C disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)