M1T (p.Met1Thr) variant of MCCC1 (Q96RQ3)
M1T (p.Met1Thr) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs776254500
- ClinGen CA2719250
- ClinVar RCV001377562
- ClinVar RCV004746362
- Pathogenic
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- MetaLR 0.71
- MetaSVM 0.22
- PolyPhen-2 0.04
- SIFT 0.00
- MutPred 0.94
- ClinVar: Pathogenic (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available