A156V (p.Ala156Val) variant of MCCC2 (Q9HCC0)
A156V (p.Ala156Val) 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.
A156V (p.Ala156Val) variant details
- p.Ala156Val
- rs2530733729
- ClinGen CA360010813
- ClinVar RCV002715609
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available