W22* (p.Trp22Ter) variant of GUCY2D (Retinal guanylyl cyclase 1)
W22* (p.Trp22Ter) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
W22* (p.Trp22Ter) variant details
- p.Trp22Ter
- rs1308509257
- ClinGen CA397942558
- ClinVar RCV001234701
- gnomAD rs1308509257
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)