G48R (p.Gly48Arg) variant of RINL (Q6ZS11)
G48R (p.Gly48Arg) in RINL (Q6ZS11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
G48R (p.Gly48Arg) variant details
- p.Gly48Arg
- TOPMed rs1038777124
- gnomAD rs1038777124
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- CADD 13.00
- PolyPhen-2 0.07
- SIFT 0.21
- Population evidence available