L611P (p.Leu611Pro) variant of ABCA4 (P78363)
L611P (p.Leu611Pro) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cone-rod dystrophy 3; Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
L611P (p.Leu611Pro) variant details
- p.Leu611Pro
- rs760735952
- ClinGen CA958415
- ClinVar RCV003562268
- ClinVar RCV004818373
- Pathogenic/Likely pathogenic
- Cone-rod dystrophy 3; Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 0.38
- SIFT 0.00
- MutPred 0.83
- ClinVar: Pathogenic/Likely pathogenic (Cone-rod dystrophy 3; Retinal dystrophy; not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Population evidence available
- Structural context available
- Cited in: Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420… (PMID 23755871)
- Cited in: The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and… (PMID 10090887)