M1V (p.Met1Val) variant of MCCC1 (Q96RQ3)
M1V (p.Met1Val) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MCCC1-related disorder; 3-methylcrotonyl-CoA carboxylase 1 deficiency. The record also includes variant effect predictions, population frequency data, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs762463914
- ClinGen CA2719251
- ClinVar RCV000653495
- ClinVar RCV003403504
- Uncertain significance
- MCCC1-related disorder; 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- MetaLR 0.73
- MetaSVM 0.37
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available