R18P (p.Arg18Pro) variant of ABCA4 (P78363)
R18P (p.Arg18Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
R18P (p.Arg18Pro) variant details
- p.Arg18Pro
- rs868543294
- ClinGen CA341288585
- ClinVar RCV001074656
- ClinVar RCV003558654
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.92
- MetaLR 0.83
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.65
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Structural context available
- Cited in: Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel… (PMID 26780318)
- Cited in: The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and… (PMID 10090887)