L1509P (p.Leu1509Pro) variant of ABCA4 (P78363)
L1509P (p.Leu1509Pro) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar 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 0.38 / 1. The record also includes population frequency data and structural context.
L1509P (p.Leu1509Pro) variant details
- p.Leu1509Pro
- NCI-TCGA TCGA novel
- Pathogenic/Likely pathogenic
- ABCA4-related disorder; not provided; Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.36
- MetaLR 0.64
- MetaSVM 0.05
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (ABCA4-related disorder; not provided; Stargardt disease)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available