R666W (p.Arg666Trp) variant of GUCY2D (Retinal guanylyl cyclase 1)
R666W (p.Arg666Trp) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of GUCY2D-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R666W (p.Arg666Trp) variant details
- p.Arg666Trp
- rs757387072
- ClinGen CA8365964
- NCI-TCGA Cosmic COSV9964
- ClinVar RCV001067287
- Likely pathogenic
- GUCY2D-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (GUCY2D-related recessive retinopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)