L21P (p.Leu21Pro) variant of CLCNKB (Chloride channel protein ClC-Kb)
L21P (p.Leu21Pro) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- TOPMed rs1363752566
- gnomAD rs1363752566
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.59
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.05
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available