R995W (p.Arg995Trp) variant of GUCY2D (Retinal guanylyl cyclase 1)
R995W (p.Arg995Trp) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R995W (p.Arg995Trp) variant details
- p.Arg995Trp
- rs61750187
- ClinGen CA226112
- ClinVar RCV000084879
- ClinVar RCV001250866
- Likely pathogenic
- GUCY2D-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (GUCY2D-related recessive retinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)