Y430C (p.Tyr430Cys) variant of MCCC1 (Q96RQ3)
Y430C (p.Tyr430Cys) 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.
Y430C (p.Tyr430Cys) variant details
- p.Tyr430Cys
- rs2530145157
- ClinGen CA355322036
- ClinVar RCV003989404
- 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