I460M (p.Ile460Met) variant of MCCC1 (Q96RQ3)
I460M (p.Ile460Met) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
I460M (p.Ile460Met) variant details
- p.Ile460Met
- rs119103218
- ClinGen CA251980
- ClinVar RCV000002012
- UniProt VAR 072505
- Pathogenic
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.81
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Pathogenic (in MCC1D)
- UniProt: Pathogenic (in MCC1D)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. (PMID 17968484)
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)