R268T (p.Arg268Thr) variant of MCCC2 (Q9HCC0)
R268T (p.Arg268Thr) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; 3-methylcrotonyl-CoA carboxylase 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R268T (p.Arg268Thr) variant details
- p.Arg268Thr
- rs119103223
- ClinGen CA251970
- ClinVar RCV000002001
- ClinVar RCV000584948
- Pathogenic
- not provided; 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.89
- CADD 37.00
- PolyPhen-2 0.52
- SIFT 0.00
- ClinVar: Pathogenic (not provided; 3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA… (PMID 11406611)
- Cited in: 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn… (PMID 16010683)