P139L (p.Pro139Leu) variant of RINL (Q6ZS11)
P139L (p.Pro139Leu) in RINL (Q6ZS11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
P139L (p.Pro139Leu) variant details
- p.Pro139Leu
- TOPMed rs765995884
- gnomAD rs765995884
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available