E288G (p.Glu288Gly) variant of MCCC1 (Q96RQ3)
E288G (p.Glu288Gly) in MCCC1 (Q96RQ3) 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 1 de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E288G (p.Glu288Gly) variant details
- p.Glu288Gly
- rs746500530
- ClinGen CA2718956
- ClinVar RCV000549808
- ClinVar RCV001275512
- Pathogenic/Likely pathogenic
- Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA carboxylase 1 de
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA)
- EBI: Pathogenic (in MCC1D)
- UniProt: Pathogenic (in MCC1D)
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)
- Cited in: Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC… (PMID 25382614)