L138R (p.Leu138Arg) variant of ETFDH (Q16134)
L138R (p.Leu138Arg) in ETFDH (Q16134) 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; Glutaric acidemia type 2C; Inborn ge. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L138R (p.Leu138Arg) variant details
- p.Leu138Arg
- rs779896449
- ClinGen CA3122353
- ClinVar RCV000498882
- ClinVar RCV000763115
- Pathogenic/Likely pathogenic
- Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia type 2C; Inborn ge
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.98
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia ty)
- EBI: Pathogenic (in GA2C)
- UniProt: Pathogenic (in GA2C)
- Most common in the REMAINING population (allele frequency 3.4e-05)
- 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)