R155Q (p.Arg155Gln) variant of MCCC2 (Q9HCC0)
R155Q (p.Arg155Gln) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R155Q (p.Arg155Gln) variant details
- p.Arg155Gln
- rs119103220
- ClinGen CA251967
- ClinVar RCV000001998
- UniProt VAR 012793
- Pathogenic/Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.95
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (PMID 11181649)
- Cited in: 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn… (PMID 16010683)