I73T (p.Ile73Thr) variant of ETFA (P13804)
I73T (p.Ile73Thr) 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 0.44 / 1. The record also includes published literature and structural context.
I73T (p.Ile73Thr) variant details
- p.Ile73Thr
- rs2039778846
- ClinGen CA393517340
- ClinVar RCV001277761
- Ensembl rs2039778846
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- ESM-1b 0.03
- AlphaMissense 0.53
- MetaLR 0.66
- MetaSVM 0.38
- PolyPhen-2 0.16
- SIFT 0.00
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)