Q222P (p.Gln222Pro) variant of ETFDH (Q16134)
Q222P (p.Gln222Pro) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Q222P (p.Gln222Pro) variant details
- p.Gln222Pro
- rs1482632936
- ClinGen CA358560019
- ClinVar RCV001533540
- ClinVar RCV001882597
- Likely pathogenic
- Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.62
- CADD 23.90
- PolyPhen-2 0.05
- SIFT 0.01
- 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 3.7e-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: Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2. (PMID 32804429)