R27H (p.Arg27His) variant of CLCNKB (Chloride channel protein ClC-Kb)
R27H (p.Arg27His) 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 0.26 / 1. The record also includes population frequency data and structural context.
R27H (p.Arg27His) variant details
- p.Arg27His
- 1000Genomes rs2015352
- ESP rs2015352
- ExAC rs2015352
- TOPMed rs2015352
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.24
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.08
- EBI: Benign (in dbSNP:rs2015352)
- UniProt: Benign (in dbSNP:rs2015352)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available