R51Q (p.Arg51Gln) variant of ETFDH (Q16134)
R51Q (p.Arg51Gln) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R51Q (p.Arg51Gln) variant details
- p.Arg51Gln
- rs534388496
- ClinGen CA3122286
- ClinVar RCV001319011
- ClinVar RCV001836301
- Conflicting interpretations
- not provided; Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia type
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.72
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (not provided; Multiple acyl-CoA dehydrogenase deficiency; Glutar)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)