G611E (p.Gly611Glu) variant of ETFDH (Q16134)
G611E (p.Gly611Glu) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehydrogenase deficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G611E (p.Gly611Glu) variant details
- p.Gly611Glu
- rs761669036
- ClinGen CA3122732
- ClinVar RCV000255489
- ClinVar RCV001069003
- Pathogenic/Likely pathogenic
- Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehydrogenase deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.80
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehyd)
- EBI: Pathogenic (in GA2C)
- UniProt: Pathogenic (in GA2C)
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase… (PMID 12359134)
- Cited in: Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation… (PMID 12815589)