L1159S (p.Leu1159Ser) variant of ABCA4 (P78363)
L1159S (p.Leu1159Ser) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
L1159S (p.Leu1159Ser) variant details
- p.Leu1159Ser
- rs1340749727
- UniProt VAR 084912
- TOPMed rs1340749727
- Likely pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- AlphaMissense 0.91
- MetaLR 0.50
- MetaSVM 0.19
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.68
- ClinVar: Likely pathogenic (ABCA4-related retinopathy)
- EBI: Variant of uncertain significance (in STGD1)
- UniProt: Uncertain significance (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)