R155G (p.Arg155Gly) variant of ETFDH (Q16134)
R155G (p.Arg155Gly) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia type 2C; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R155G (p.Arg155Gly) variant details
- p.Arg155Gly
- rs549150456
- ClinGen CA108850123
- ClinVar RCV000489467
- ClinVar RCV000987487
- Pathogenic/Likely pathogenic
- Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia type 2C; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.77
- CADD 23.50
- PolyPhen-2 0.60
- SIFT 0.09
- ClinVar: Pathogenic/Likely pathogenic (Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia ty)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)