R2139W (p.Arg2139Trp) variant of ABCA4 (P78363)
R2139W (p.Arg2139Trp) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R2139W (p.Arg2139Trp) variant details
- p.Arg2139Trp
- rs61750653
- ClinGen CA227402
- NCI-TCGA Cosmic COSV6467
- cosmic curated COSV64676
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.97
- MetaLR 0.98
- MetaSVM 1.06
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Population evidence available
- Structural context available
- Cited in: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. (PMID 11527935)
- Cited in: Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. (PMID 15192030)