L1784P (p.Leu1784Pro) variant of ABCA4 (P78363)
L1784P (p.Leu1784Pro) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Stargardt disease; Severe early-childhood-onset retinal dystrophy; Age related m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
L1784P (p.Leu1784Pro) variant details
- p.Leu1784Pro
- rs746252741
- ClinGen CA341281459
- ClinVar RCV004526446
- ClinVar RCV005023562
- Pathogenic
- Stargardt disease; Severe early-childhood-onset retinal dystrophy; Age related m
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.86
- MetaLR 0.81
- MetaSVM 0.82
- CADD 29.70
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Pathogenic (Stargardt disease; Severe early-childhood-onset retinal dystroph)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)