A13G (p.Ala13Gly) variant of MCCC2 (Q9HCC0)
A13G (p.Ala13Gly) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-methylcrotonyl-CoA carboxylase 2 deficiency. The record also includes structural context.
A13G (p.Ala13Gly) variant details
- p.Ala13Gly
- rs2530684146
- ClinGen CA360001639
- ClinVar RCV003057475
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available