T556A (p.Thr556Ala) variant of MCCC2 (Q9HCC0)
T556A (p.Thr556Ala) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
T556A (p.Thr556Ala) variant details
- p.Thr556Ala
- rs1580337435
- ClinVar RCV004574832
- Ensembl rs1580337435
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- AlphaMissense 0.16
- MetaLR 0.83
- MetaSVM 0.63
- PolyPhen-2 0.31
- SIFT 0.01
- MutPred 0.49
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available