V157G (p.Val157Gly) variant of ETFA (P13804)
V157G (p.Val157Gly) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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.
V157G (p.Val157Gly) variant details
- p.Val157Gly
- rs119458969
- ClinGen CA115637
- ClinVar RCV000002711
- ClinVar RCV002281690
- Pathogenic/Likely pathogenic
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.89
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic (in GA2A)
- UniProt: Pathogenic (in GA2A)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations… (PMID 1430199)
- Cited in: Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric… (PMID 1882842)