R146K (p.Arg146Lys) variant of RINL (Q6ZS11)
R146K (p.Arg146Lys) 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 0.42 / 1. The record also includes population frequency data and structural context.
R146K (p.Arg146Lys) variant details
- p.Arg146Lys
- ESP rs369340366
- ExAC rs369340366
- TOPMed rs369340366
- gnomAD rs369340366
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available