R61W (p.Arg61Trp) variant of MMACHC (Q9Y4U1)
R61W (p.Arg61Trp) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Methylmalonic aciduria, type cblc; Inborn genetic diseases; Disorders of Intrace. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R61W (p.Arg61Trp) variant details
- p.Arg61Trp
- rs200483477
- ClinGen CA312726
- cosmic curated COSV53114
- ClinVar RCV000186023
- Conflicting interpretations
- Methylmalonic aciduria, type cblc; Inborn genetic diseases; Disorders of Intrace
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.33
- CADD 24.20
- PolyPhen-2 0.53
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Methylmalonic aciduria, type cblc; Inborn genetic diseases; Diso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YI population (allele frequency 0.15)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)