Q104K (p.Gln104Lys) variant of MCCC1 (Q96RQ3)
Q104K (p.Gln104Lys) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-methylcrotonyl-CoA carboxylase 1 deficiency. The record also includes structural context.
Q104K (p.Gln104Lys) variant details
- p.Gln104Lys
- TOPMed rs1177891822
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available