R27P (p.Arg27Pro) variant of CLCNKB (Chloride channel protein ClC-Kb)
R27P (p.Arg27Pro) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R27P (p.Arg27Pro) variant details
- p.Arg27Pro
- 1000Genomes rs2015352
- ESP rs2015352
- ExAC rs2015352
- TOPMed rs2015352
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.57
- CADD 16.70
- PolyPhen-2 0.38
- SIFT 0.09
- EBI: Benign (in dbSNP:rs2015352)
- UniProt: Benign (in dbSNP:rs2015352)
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available