T75A (p.Thr75Ala) variant of MCCC1 (Q96RQ3)
T75A (p.Thr75Ala) 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.
T75A (p.Thr75Ala) variant details
- p.Thr75Ala
- rs2530509602
- ClinGen CA355321661
- ClinVar RCV002466781
- 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