T33I (p.Thr33Ile) variant of MCCC2 (Q9HCC0)
T33I (p.Thr33Ile) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-methylcrotonyl-CoA carboxylase 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
T33I (p.Thr33Ile) variant details
- p.Thr33Ile
- rs2112251506
- ClinGen CA360002246
- ClinVar RCV001904852
- Ensembl rs2112251506
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.55
- CADD 23.00
- PolyPhen-2 0.41
- SIFT 0.00
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available