R602W (p.Arg602Trp) variant of ABCA4 (P78363)
R602W (p.Arg602Trp) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R602W (p.Arg602Trp) variant details
- p.Arg602Trp
- rs61749409
- ClinGen CA226932
- NCI-TCGA Cosmic COSV1009
- ClinVar RCV000085428
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.93
- MetaLR 0.95
- MetaSVM 1.08
- CADD 24.70
- PolyPhen-2 0.13
- SIFT 0.00
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: An analysis of ABCR mutations in British patients with recessive retinal dystrophies. (PMID 10634594)
- Cited in: Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt… (PMID 18977788)