G611R (p.Gly611Arg) variant of ETFDH (Q16134)
G611R (p.Gly611Arg) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 population frequency data, published literature, and structural context.
G611R (p.Gly611Arg) variant details
- p.Gly611Arg
- rs1774704214
- ClinGen CA358566950
- ClinVar RCV003388383
- ClinVar RCV003397028
- Likely pathogenic
- Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.77
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase defic)
- EBI: Likely pathogenic (in GA2C)
- UniProt: Likely pathogenic (in GA2C)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)