C1490Y (p.Cys1490Tyr) variant of ABCA4 (P78363)
C1490Y (p.Cys1490Tyr) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
C1490Y (p.Cys1490Tyr) variant details
- p.Cys1490Tyr
- rs61751402
- ClinGen CA227198
- ClinVar RCV000085641
- ClinVar RCV000177442
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.95
- MetaLR 0.96
- MetaSVM 1.10
- CADD 28.70
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1 and CORD3)
- UniProt: Pathogenic (in STGD1 and CORD3)
- Most common in the REMAINING population (allele frequency 0.00012)
- Structural context available
- Cited in: Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. (PMID 10958761)
- Cited in: Biochemical defects in ABCR protein variants associated with human retinopathies. (PMID 11017087)