R588W (p.Arg588Trp) variant of GUCY2D (Retinal guanylyl cyclase 1)
R588W (p.Arg588Trp) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GUCY2D-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R588W (p.Arg588Trp) variant details
- p.Arg588Trp
- rs940175403
- ClinGen CA287530833
- ClinVar RCV003064395
- ClinVar RCV003992701
- Pathogenic
- GUCY2D-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.21
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (GUCY2D-related recessive retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)