E59G (p.Glu59Gly) variant of MCCC1 (Q96RQ3)
E59G (p.Glu59Gly) 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 record also includes structural context.
E59G (p.Glu59Gly) variant details
- p.Glu59Gly
- rs2530510478
- ClinGen CA355321790
- ClinVar RCV003498208
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available