C2150Y (p.Cys2150Tyr) variant of ABCA4 (P78363)
C2150Y (p.Cys2150Tyr) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
C2150Y (p.Cys2150Tyr) variant details
- p.Cys2150Tyr
- rs61751384
- ClinGen CA227408
- ClinVar RCV000085823
- ClinVar RCV000408531
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.92
- MetaLR 0.93
- MetaSVM 1.09
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1 and CORD3)
- UniProt: Pathogenic (in STGD1 and CORD3)
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. (PMID 10206579)
- Cited in: An analysis of ABCR mutations in British patients with recessive retinal dystrophies. (PMID 10634594)