E60* (p.Glu60Ter) variant of ETFB (P38117)
E60* (p.Glu60Ter) in ETFB (P38117) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E60* (p.Glu60Ter) variant details
- p.Glu60Ter
- rs1193726585
- ClinGen CA407083102
- ClinVar RCV003857880
- TOPMed rs1193726585
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.883
- CADD 44.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)