S1096L (p.Ser1096Leu) variant of ABCA4 (P78363)
S1096L (p.Ser1096Leu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Severe early-childhood-onset retinal dystrophy; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
S1096L (p.Ser1096Leu) variant details
- p.Ser1096Leu
- rs763267492
- ClinGen CA957995
- ClinVar RCV001543576
- ClinVar RCV003888303
- Pathogenic/Likely pathogenic
- not provided; Severe early-childhood-onset retinal dystrophy; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.88
- MetaLR 0.79
- MetaSVM 0.70
- CADD 27.50
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Severe early-childhood-onset retinal dystrophy; Re)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)