R2077W (p.Arg2077Trp) variant of ABCA4 (P78363)
R2077W (p.Arg2077Trp) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R2077W (p.Arg2077Trp) variant details
- p.Arg2077Trp
- rs61750645
- ClinGen CA227380
- ClinVar RCV000085797
- ClinVar RCV000504630
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.95
- MetaLR 0.96
- MetaSVM 1.09
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- 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: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular… (PMID 10958763)