R313C (p.Arg313Cys) variant of GUCY2D (Retinal guanylyl cyclase 1)
R313C (p.Arg313Cys) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R313C (p.Arg313Cys) variant details
- p.Arg313Cys
- rs61749674
- ClinGen CA226156
- NCI-TCGA Cosmic COSV5469
- ClinVar RCV000084907
- Likely pathogenic
- GUCY2D-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.30
- CADD 27.60
- PolyPhen-2 0.92
- SIFT 0.04
- ClinVar: Likely pathogenic (GUCY2D-related recessive retinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)