I42T (p.Ile42Thr) variant of ETFDH (Q16134)
I42T (p.Ile42Thr) in ETFDH (Q16134) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
I42T (p.Ile42Thr) variant details
- p.Ile42Thr
- rs1773827794
- ClinGen CA358573464
- ClinVar RCV003086052
- TOPMed rs1773827794
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.84
- CADD 25.70
- PolyPhen-2 0.86
- SIFT 0.04
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)