P483L (p.Pro483Leu) variant of ETFDH (Q16134)
P483L (p.Pro483Leu) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II; Glutaric acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P483L (p.Pro483Leu) variant details
- p.Pro483Leu
- rs377656387
- ClinGen CA129836
- cosmic curated COSV56988
- ClinVar RCV000024306
- Pathogenic/Likely pathogenic
- Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II; Glutaric acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.97
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II; Gl)
- EBI: Pathogenic (in GA2C)
- UniProt: Pathogenic (in GA2C)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein… (PMID 17412732)
- Cited in: Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase… (PMID 12359134)