C17* (p.Cys17Ter) variant of GUCY2D (Retinal guanylyl cyclase 1)
C17* (p.Cys17Ter) in GUCY2D (Retinal guanylyl cyclase 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
C17* (p.Cys17Ter) variant details
- p.Cys17Ter
- rs2545417252
- ClinGen CA397942474
- ClinVar RCV003800805
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.798
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)