R51L (p.Arg51Leu) variant of ETFDH (Q16134)
R51L (p.Arg51Leu) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R51L (p.Arg51Leu) variant details
- p.Arg51Leu
- rs534388496
- ClinGen CA358573535
- ClinVar RCV001963736
- 1000Genomes rs534388496
- Likely pathogenic
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.83
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Likely pathogenic (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)