P3R (p.Pro3Arg) variant of MMACHC (Q9Y4U1)
P3R (p.Pro3Arg) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P3R (p.Pro3Arg) variant details
- p.Pro3Arg
- rs201807738
- ClinGen CA827595
- ClinVar RCV002174708
- ClinVar RCV002508338
- Conflicting interpretations
- not provided; Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.38
- CADD 22.60
- PolyPhen-2 0.61
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cobalamin C disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00048)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)