R30P (p.Arg30Pro) variant of CLCNKB (Chloride channel protein ClC-Kb)
R30P (p.Arg30Pro) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R30P (p.Arg30Pro) variant details
- p.Arg30Pro
- gnomAD 1-16044581-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.59
- CADD 22.30
- PolyPhen-2 1.00
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available