G362R (p.Gly362Arg) variant of ETFDH (Q16134)
G362R (p.Gly362Arg) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ETFDH-related disorder; Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogena. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G362R (p.Gly362Arg) variant details
- p.Gly362Arg
- rs369711837
- ClinGen CA3122544
- cosmic curated COSV57014
- ClinVar RCV000539322
- Likely pathogenic
- ETFDH-related disorder; Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogena
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.93
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (ETFDH-related disorder; Glutaric acidemia type 2C; Multiple acyl)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)