C54Y (p.Cys54Tyr) variant of ABCA4 (P78363)
C54Y (p.Cys54Tyr) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal disorder; Retinal dystrophy; Severe early-childhood-onset retinal dystro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
C54Y (p.Cys54Tyr) variant details
- p.Cys54Tyr
- rs150774447
- ClinGen CA226908
- ClinVar RCV000085408
- ClinVar RCV000210980
- Pathogenic/Likely pathogenic
- Retinal disorder; Retinal dystrophy; Severe early-childhood-onset retinal dystro
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- REVEL 0.98
- MetaLR 0.98
- MetaSVM 1.08
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal disorder; Retinal dystrophy; Severe early-childhood-onse)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the REMAINING population (allele frequency 0.0002)
- Structural context available
- Cited in: A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. (PMID 10612508)
- Cited in: An analysis of ABCR mutations in British patients with recessive retinal dystrophies. (PMID 10634594)