G116R (p.Gly116Arg) variant of ETFA (P13804)
G116R (p.Gly116Arg) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glutaric acidemia type 2A; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G116R (p.Gly116Arg) variant details
- p.Gly116Arg
- rs119458971
- ClinGen CA115639
- cosmic curated COSV10957
- ClinVar RCV000002713
- Likely pathogenic
- Glutaric acidemia type 2A; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glutaric acidemia type 2A; Multiple acyl-CoA dehydrogenase defic)
- EBI: Pathogenic (in GA2A)
- UniProt: Pathogenic (in GA2A)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations… (PMID 1430199)
- Cited in: Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein. (PMID 9334218)