L2035P (p.Leu2035Pro) variant of ABCA4 (P78363)
L2035P (p.Leu2035Pro) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; not provided; Severe early-childhood-onset retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
L2035P (p.Leu2035Pro) variant details
- p.Leu2035Pro
- rs61750642
- ClinGen CA227367
- ClinVar RCV000085788
- ClinVar RCV003324514
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- MutPred 0.95
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Severe early-childhood-onset re)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Structural context available
- Cited in: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. (PMID 11527935)
- Cited in: The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and… (PMID 10090887)