T556I (p.Thr556Ile) variant of MCCC2 (Q9HCC0)
T556I (p.Thr556Ile) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; 3-methylcrotonyl-CoA carboxylase 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
T556I (p.Thr556Ile) variant details
- p.Thr556Ile
- rs1049171546
- ClinGen CA120008692
- ClinVar RCV001998721
- ClinVar RCV005406250
- Conflicting interpretations
- not specified; 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- AlphaMissense 0.61
- MetaLR 0.91
- MetaSVM 1.03
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.60
- ClinVar: Conflicting classifications of pathogenicity (not specified; 3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available