G46E (p.Gly46Glu) variant of MCCC1 (Q96RQ3)
G46E (p.Gly46Glu) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G46E (p.Gly46Glu) variant details
- p.Gly46Glu
- rs199517715
- ClinGen CA312679
- ClinVar RCV000185992
- ClinVar RCV000554762
- Conflicting interpretations
- Inborn genetic diseases; Methylcrotonyl-CoA carboxylase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.42
- CADD 24.90
- PolyPhen-2 0.06
- SIFT 0.22
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Methylcrotonyl-CoA carboxylase deficien)
- EBI: Pathogenic (in MCC1D)
- UniProt: Pathogenic (in MCC1D)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)