S82F (p.Ser82Phe) variant of ETFDH (Q16134)
S82F (p.Ser82Phe) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of ETFDH-related disorder; Multiple acyl-CoA dehydrogenase deficiency; not specifie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
S82F (p.Ser82Phe) variant details
- p.Ser82Phe
- rs887871605
- ClinGen CA108848785
- ClinVar RCV003388535
- ClinVar RCV003420682
- Conflicting interpretations
- ETFDH-related disorder; Multiple acyl-CoA dehydrogenase deficiency; not specifie
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.86
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (ETFDH-related disorder; Multiple acyl-CoA dehydrogenase deficien)
- EBI: Pathogenic (in GA2C)
- UniProt: Pathogenic (in GA2C)
- Most common in the Non-Finnish European population (allele frequency 4.4e-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)