R385G (p.Arg385Gly) variant of MCCC1 (Q96RQ3)
R385G (p.Arg385Gly) 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 0.61 / 1. The record also includes population frequency data and structural context.
R385G (p.Arg385Gly) variant details
- p.Arg385Gly
- rs1553854969
- ClinGen CA355323050
- ClinVar RCV000653497
- Ensembl rs1553854969
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.83
- CADD 24.50
- PolyPhen-2 0.56
- SIFT 0.01
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Likely pathogenic (in MCC1D)
- UniProt: Likely pathogenic (in MCC1D)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available