E93K (p.Glu93Lys) variant of RINL (Q6ZS11)
E93K (p.Glu93Lys) in RINL (Q6ZS11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
E93K (p.Glu93Lys) variant details
- p.Glu93Lys
- rs61740709
- 1000Genomes rs61740709
- TOPMed rs61740709
- gnomAD rs61740709
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 12.80
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available