W1408R (p.Trp1408Arg) variant of ABCA4 (P78363)
W1408R (p.Trp1408Arg) 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 disorder; Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
W1408R (p.Trp1408Arg) variant details
- p.Trp1408Arg
- rs61750135
- ClinGen CA227166
- ClinVar RCV000085613
- ClinVar RCV000210333
- Pathogenic/Likely pathogenic; other
- Retinal disorder; Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.82
- MetaLR 0.73
- MetaSVM 0.49
- CADD 27.30
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic; other (Retinal disorder; Retinal dystrophy; not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Biochemical defects in ABCR protein variants associated with human retinopathies. (PMID 11017087)
- Cited in: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. (PMID 11527935)