T45I (p.Thr45Ile) variant of MCCC1 (Q96RQ3)
T45I (p.Thr45Ile) 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 0.47 / 1. The record also includes population frequency data and structural context.
T45I (p.Thr45Ile) variant details
- p.Thr45Ile
- TOPMed rs1410294013
- gnomAD rs1410294013
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.27
- CADD 25.20
- PolyPhen-2 0.05
- SIFT 0.07
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available