R30L (p.Arg30Leu) variant of CLCNKB (Chloride channel protein ClC-Kb)
R30L (p.Arg30Leu) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R30L (p.Arg30Leu) variant details
- p.Arg30Leu
- gnomAD 1-16044581-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.54
- CADD 22.30
- PolyPhen-2 1.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available