G610R (p.Gly610Arg) variant of ETFDH (Q16134)
G610R (p.Gly610Arg) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.79 / 1. The record also includes published literature and structural context.
G610R (p.Gly610Arg) variant details
- p.Gly610Arg
- rs2126321296
- ClinGen CA358566944
- ClinVar RCV002038411
- Ensembl rs2126321296
- Pathogenic/Likely pathogenic
- Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- AlphaMissense 0.82
- MetaLR 0.75
- MetaSVM 0.58
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic/Likely pathogenic (Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase defic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)