R57K (p.Arg57Lys) variant of MCCC1 (Q96RQ3)
R57K (p.Arg57Lys) 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.
R57K (p.Arg57Lys) variant details
- p.Arg57Lys
- rs2530510608
- ClinGen CA355321821
- ClinVar RCV003839046
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available