R3* (p.Arg3Ter) variant of ETFA (P13804)
R3* (p.Arg3Ter) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R3* (p.Arg3Ter) variant details
- p.Arg3Ter
- rs1475984278
- ClinGen CA393519620
- ClinVar RCV000985194
- gnomAD rs1475984278
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.842
- CADD 39.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)