R193C (p.Arg193Cys) variant of MCCC2 (Q9HCC0)
R193C (p.Arg193Cys) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA carboxylase 2 de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R193C (p.Arg193Cys) variant details
- p.Arg193Cys
- rs547662164
- ClinGen CA312687
- NCI-TCGA Cosmic COSV6015
- cosmic curated COSV60154
- Pathogenic/Likely pathogenic
- Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA carboxylase 2 de
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.91
- CADD 24.20
- PolyPhen-2 0.29
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (PMID 11181649)
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)