W69* (p.Trp69Ter) variant of ABCA4 (P78363)
W69* (p.Trp69Ter) 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 0.78 / 1. The record also includes population frequency data and structural context.
W69* (p.Trp69Ter) variant details
- p.Trp69Ter
- rs886044722
- ClinGen CA10602454
- ClinVar RCV000408521
- ClinVar RCV004816383
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available