C764Y (p.Cys764Tyr) variant of ABCA4 (P78363)
C764Y (p.Cys764Tyr) 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 dystrophy; not provided; Severe early-childhood-onset retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
C764Y (p.Cys764Tyr) variant details
- p.Cys764Tyr
- rs61749428
- ClinGen CA226986
- ClinVar RCV000085467
- ClinVar RCV000408455
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.83
- AlphaMissense 0.52
- MetaLR 0.75
- MetaSVM 0.64
- CADD 25.90
- PolyPhen-2 0.99
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Severe early-childhood-onset re)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular… (PMID 10958763)
- Cited in: An analysis of allelic variation in the ABCA4 gene. (PMID 11328725)