I434M (p.Ile434Met) variant of MCCC1 (Q96RQ3)
I434M (p.Ile434Met) 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; not provided; 3-methylcrotonyl-CoA ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
I434M (p.Ile434Met) variant details
- p.Ile434Met
- rs376289130
- ClinGen CA2718817
- ClinVar RCV000822030
- ClinVar RCV001575916
- Pathogenic/Likely pathogenic
- Methylcrotonyl-CoA carboxylase deficiency; not provided; 3-methylcrotonyl-CoA ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.82
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylcrotonyl-CoA carboxylase deficiency; not provided; 3-methy)
- EBI: Pathogenic (in MCC1D)
- UniProt: Pathogenic (in MCC1D)
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)
- Cited in: The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PMID 11170888)