G48W (p.Gly48Trp) variant of RINL (Q6ZS11)
G48W (p.Gly48Trp) in RINL (Q6ZS11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
G48W (p.Gly48Trp) variant details
- p.Gly48Trp
- TOPMed rs1038777124
- gnomAD rs1038777124
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 22.70
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available