C167R (p.Cys167Arg) variant of MCCC2 (Q9HCC0)
C167R (p.Cys167Arg) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
C167R (p.Cys167Arg) variant details
- p.Cys167Arg
- rs119103222
- ClinGen CA251969
- ClinVar RCV000002000
- ClinVar RCV004689401
- Pathogenic/Likely pathogenic
- Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA carboxylase 2 de
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.98
- CADD 29.50
- PolyPhen-2 1.00
- 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 Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PMID 11170888)
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)