C276G (p.Cys276Gly) variant of MCCC1 (Q96RQ3)
C276G (p.Cys276Gly) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
C276G (p.Cys276Gly) variant details
- p.Cys276Gly
- rs773433541
- ClinGen CA88712299
- ClinVar RCV002651350
- ExAC rs773433541
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.98
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Likely pathogenic (in MCC1D)
- UniProt: Likely pathogenic (in MCC1D)
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available