W57* (p.Trp57Ter) variant of ETFDH (Q16134)
W57* (p.Trp57Ter) in ETFDH (Q16134) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
W57* (p.Trp57Ter) variant details
- p.Trp57Ter
- rs1232214003
- ClinGen CA358573595
- ClinVar RCV003476393
- TOPMed rs1232214003
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.862
- CADD 38.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)