R2038W (p.Arg2038Trp) variant of ABCA4 (P78363)
R2038W (p.Arg2038Trp) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R2038W (p.Arg2038Trp) variant details
- p.Arg2038Trp
- rs61750643
- ClinGen CA227368
- ClinVar RCV000085789
- ClinVar RCV000408458
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.94
- MetaLR 0.94
- MetaSVM 1.08
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the REMAINING population (allele frequency 0.00048)
- 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: Functional analysis of genetic mutations in nucleotide binding domain 2 of the human retina specific ABC transporter. (PMID 12962493)