R66C (p.Arg66Cys) variant of MCCC1 (Q96RQ3)
R66C (p.Arg66Cys) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA carboxylase 1 de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R66C (p.Arg66Cys) variant details
- p.Arg66Cys
- rs754460336
- ClinGen CA2719171
- NCI-TCGA Cosmic COSV9966
- cosmic curated COSV99660
- Likely pathogenic
- Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA carboxylase 1 de
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.91
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available