R42C (p.Arg42Cys) variant of RINL (Q6ZS11)
R42C (p.Arg42Cys) in RINL (Q6ZS11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
R42C (p.Arg42Cys) variant details
- p.Arg42Cys
- 1000Genomes rs551555322
- TOPMed rs551555322
- gnomAD rs551555322
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 25.10
- PolyPhen-2 0.84
- SIFT 0.04
- Population evidence available