W15* (p.Trp15Ter) variant of ABCA4 (P78363)
W15* (p.Trp15Ter) in ABCA4 (P78363) 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 0.87 / 1. The record also includes population frequency data and structural context.
W15* (p.Trp15Ter) variant details
- p.Trp15Ter
- rs2101191402
- ClinGen CA341288638
- ClinVar RCV001970126
- Ensembl rs2101191402
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.867
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available