R1640W (p.Arg1640Trp) variant of ABCA4 (P78363)
R1640W (p.Arg1640Trp) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic; other in the context of Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R1640W (p.Arg1640Trp) variant details
- p.Arg1640Trp
- rs61751404
- ClinGen CA227253
- cosmic curated COSV10651
- ClinVar RCV000085683
- Pathogenic/Likely pathogenic; other
- Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.80
- MetaLR 0.79
- MetaSVM 0.14
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic; other (Retinal dystrophy; Severe early-childhood-onset retinal dystroph)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: An analysis of ABCR mutations in British patients with recessive retinal dystrophies. (PMID 10634594)
- Cited in: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. (PMID 11527935)