R27S (p.Arg27Ser) variant of CLCNKB (Chloride channel protein ClC-Kb)
R27S (p.Arg27Ser) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R27S (p.Arg27Ser) variant details
- p.Arg27Ser
- gnomAD 1-16044571-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.22
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available