E99Q (p.Glu99Gln) variant of MCCC2 (Q9HCC0)
E99Q (p.Glu99Gln) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
E99Q (p.Glu99Gln) variant details
- p.Glu99Gln
- rs119103219
- ClinGen CA223633
- ClinVar RCV000001997
- ClinVar RCV000082095
- Pathogenic/Likely pathogenic
- not provided; Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.92
- AlphaMissense 0.89
- MetaLR 0.99
- MetaSVM 0.97
- CADD 28.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Methylcrotonyl-CoA carboxylase deficiency; 3-methy)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the Amish population (allele frequency 0.018)
- Structural context available
- Cited in: The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (PMID 11181649)
- Cited in: Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a… (PMID 1293382)