M39I (p.Met39Ile) variant of MCCC1 (Q96RQ3)
M39I (p.Met39Ile) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
M39I (p.Met39Ile) variant details
- p.Met39Ile
- rs1718606011
- ClinGen CA355322502
- ClinVar RCV002994713
- TOPMed rs1718606011
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- AlphaMissense 0.15
- MetaLR 0.74
- MetaSVM 0.24
- PolyPhen-2 0.00
- SIFT 0.50
- MutPred 0.50
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available