R175L (p.Arg175Leu) variant of ETFDH (Q16134)
R175L (p.Arg175Leu) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R175L (p.Arg175Leu) variant details
- p.Arg175Leu
- rs121964955
- ClinGen CA121819
- cosmic curated COSV57014
- ClinVar RCV000012809
- Pathogenic
- Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.93
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase defic)
- EBI: Pathogenic (in GA2C)
- UniProt: Pathogenic (in GA2C)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple… (PMID 19249206)
- Cited in: Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase… (PMID 12359134)