G356E (p.Gly356Glu) variant of ETFDH (Q16134)
G356E (p.Gly356Glu) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely 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 0.83 / 1. The record also includes population frequency data and structural context.
G356E (p.Gly356Glu) variant details
- p.Gly356Glu
- Ensembl rs1774391150
- Pathogenic/Likely pathogenic
- Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia type 2C
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.85
- CADD 28.60
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia ty)
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available