L1583P (p.Leu1583Pro) variant of ABCA4 (P78363)
L1583P (p.Leu1583Pro) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ABCA4-related disorder; not provided; Stargardt disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
L1583P (p.Leu1583Pro) variant details
- p.Leu1583Pro
- rs61750153
- ClinGen CA227233
- ClinVar RCV000085669
- ClinVar RCV001376269
- Pathogenic/Likely pathogenic
- ABCA4-related disorder; not provided; Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.81
- MetaLR 0.83
- MetaSVM 0.78
- CADD 26.50
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ABCA4-related disorder; not provided; Stargardt disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available