P26L (p.Pro26Leu) variant of CLCNKB (Chloride channel protein ClC-Kb)
P26L (p.Pro26Leu) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar 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 0.73 / 1. The record also includes population frequency data and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- rs1445924613
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10099
- NCI-TCGA Cosmic COSV6516
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.70
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available