M325R (p.Met325Arg) variant of MCCC1 (Q96RQ3)
M325R (p.Met325Arg) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Methylcrotonyl-CoA carboxylase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
M325R (p.Met325Arg) variant details
- p.Met325Arg
- rs119103212
- ClinGen CA251975
- ClinVar RCV000002006
- ClinVar RCV000081995
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Methylcrotonyl-CoA carboxylase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.97
- CADD 33.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Methylcrotonyl-CoA carbox)
- EBI: Pathogenic (in MCC1D)
- UniProt: Pathogenic (in MCC1D)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PMID 11170888)
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)