S82P (p.Ser82Pro) variant of ETFDH (Q16134)
S82P (p.Ser82Pro) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
S82P (p.Ser82Pro) variant details
- p.Ser82Pro
- rs2479080250
- ClinGen CA358574003
- ClinVar RCV003476380
- UniProt VAR 075441
- Likely pathogenic
- Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.86
- CADD 27.50
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Likely pathogenic (Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase defic)
- EBI: Pathogenic (in GA2C)
- UniProt: Pathogenic (in GA2C)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase… (PMID 12359134)
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)