G467R (p.Gly467Arg) variant of ETFDH (Q16134)
G467R (p.Gly467Arg) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia type 2C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G467R (p.Gly467Arg) variant details
- p.Gly467Arg
- rs1174882036
- ClinGen CA358564492
- ClinVar RCV001069265
- TOPMed rs1174882036
- Pathogenic
- Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia type 2C
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.98
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia ty)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)