G170E (p.Gly170Glu) variant of ETFA (P13804)
G170E (p.Gly170Glu) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G170E (p.Gly170Glu) variant details
- p.Gly170Glu
- rs780998008
- ClinGen CA7673742
- ClinVar RCV000795167
- ExAC rs780998008
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 27.40
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)