Q477R (p.Gln477Arg) variant of MCCC2 (Q9HCC0)
Q477R (p.Gln477Arg) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Q477R (p.Gln477Arg) variant details
- p.Gln477Arg
- rs769558016
- ClinGen CA3298146
- ClinVar RCV002031082
- ClinVar RCV004782864
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency; Methylcrotonyl-CoA carboxylase de
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.98
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency; Methylcrotonyl-Co)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. (PMID 21071250)
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)