W21* (p.Trp21Ter) variant of GUCY2D (Retinal guanylyl cyclase 1)
W21* (p.Trp21Ter) in GUCY2D (Retinal guanylyl cyclase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
W21* (p.Trp21Ter) variant details
- p.Trp21Ter
- TOPMed rs926004217
- gnomAD rs926004217
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available