A456P (p.Ala456Pro) variant of MCCC2 (Q9HCC0)
A456P (p.Ala456Pro) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 2 deficiency. The record also includes structural context.
A456P (p.Ala456Pro) variant details
- p.Ala456Pro
- rs2530858303
- ClinGen CA359998318
- ClinVar RCV003059079
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Likely pathogenic (in MCC2D)
- UniProt: Likely pathogenic (in MCC2D)
- Structural context available