G475R (p.Gly475Arg) variant of MCCC2 (Q9HCC0)
G475R (p.Gly475Arg) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Methylcrotonyl-CoA carboxylase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G475R (p.Gly475Arg) variant details
- p.Gly475Arg
- rs148773718
- ClinGen CA3298144
- ClinVar RCV000533421
- ClinVar RCV002469192
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Methylcrotonyl-CoA carboxylase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Methylcrotonyl-CoA carboxylase deficien)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the Latino/Admixed American population (allele frequency 0.00085)
- Structural context available
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)
- Cited in: 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. (PMID 27601257)