L1784R (p.Leu1784Arg) variant of ABCA4 (P78363)
L1784R (p.Leu1784Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Stargardt disease. 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.
L1784R (p.Leu1784Arg) variant details
- p.Leu1784Arg
- rs746252741
- ClinGen CA957294
- ClinVar RCV001002815
- ClinVar RCV003769391
- Pathogenic
- not provided; Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.85
- MetaLR 0.80
- MetaSVM 0.78
- CADD 29.00
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Stargardt disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available