G352R (p.Gly352Arg) variant of MCCC2 (Q9HCC0)
G352R (p.Gly352Arg) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 2 deficiency; Methylcrotonyl-CoA carboxylase de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G352R (p.Gly352Arg) variant details
- p.Gly352Arg
- rs765438239
- ClinGen CA3297989
- ClinVar RCV002027785
- ClinVar RCV003403657
- Pathogenic/Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency; Methylcrotonyl-CoA carboxylase de
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- REVEL 0.98
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency; Methylcrotonyl-Co)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)
- Cited in: The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PMID 11170888)