R155W (p.Arg155Trp) variant of MCCC2 (Q9HCC0)
R155W (p.Arg155Trp) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R155W (p.Arg155Trp) variant details
- p.Arg155Trp
- rs141030969
- ClinGen CA3297783
- cosmic curated COSV60157
- ClinVar RCV000686151
- Pathogenic/Likely pathogenic
- not provided; Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.97
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Methylcrotonyl-CoA carboxylase deficiency; 3-methy)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn… (PMID 16010683)
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)