C155* (p.Cys155Ter) variant of ETFA (P13804)
C155* (p.Cys155Ter) in ETFA (P13804) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
C155* (p.Cys155Ter) variant details
- p.Cys155Ter
- rs1239955378
- ClinVar RCV004576398
- TOPMed rs1239955378
- gnomAD rs1239955378
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)