W47* (p.Trp47Ter) variant of RINL (Q6ZS11)
W47* (p.Trp47Ter) in RINL (Q6ZS11) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
W47* (p.Trp47Ter) variant details
- p.Trp47Ter
- TOPMed rs1225717910
- gnomAD rs1225717910
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 32.00
- Population evidence available