P15R (p.Pro15Arg) variant of CLCNKB (Chloride channel protein ClC-Kb)
P15R (p.Pro15Arg) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P15R (p.Pro15Arg) variant details
- p.Pro15Arg
- TOPMed rs1412014358
- gnomAD rs1412014358
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.65
- CADD 23.50
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available