C2137Y (p.Cys2137Tyr) variant of ABCA4 (P78363)
C2137Y (p.Cys2137Tyr) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
C2137Y (p.Cys2137Tyr) variant details
- p.Cys2137Tyr
- rs1659154730
- ClinGen CA341277358
- ClinVar RCV002648166
- UniProt VAR 067430
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.97
- MetaLR 1.00
- MetaSVM 0.94
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification… (PMID 19028736)
- Cited in: Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420… (PMID 23755871)