I54T (p.Ile54Thr) variant of MCCC1 (Q96RQ3)
I54T (p.Ile54Thr) 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 0.79 / 1. The record also includes population frequency data and structural context.
I54T (p.Ile54Thr) variant details
- p.Ile54Thr
- rs796051987
- ClinGen CA312683
- ClinVar RCV001361105
- TOPMed rs796051987
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.97
- CADD 26.70
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available