W57R (p.Trp57Arg) variant of ETFDH (Q16134)
W57R (p.Trp57Arg) 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.
W57R (p.Trp57Arg) variant details
- p.Trp57Arg
- rs1773829495
- ClinGen CA358573592
- ClinVar RCV002006312
- TOPMed rs1773829495
- Likely pathogenic
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.86
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)