I108T (p.Ile108Thr) variant of ETFA (P13804)
I108T (p.Ile108Thr) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
I108T (p.Ile108Thr) variant details
- p.Ile108Thr
- rs1414148078
- ClinGen CA393516827
- ClinVar RCV002791315
- TOPMed rs1414148078
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 27.80
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)