C276R (p.Cys276Arg) variant of MCCC1 (Q96RQ3)
C276R (p.Cys276Arg) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
C276R (p.Cys276Arg) variant details
- p.Cys276Arg
- rs773433541
- ClinGen CA2718960
- ClinVar RCV003461837
- UniProt VAR 067197
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.97
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely 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: Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. (PMID 22150417)
- Cited in: The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PMID 11170888)