L36P (p.Leu36Pro) variant of CLCNKB (Chloride channel protein ClC-Kb)
L36P (p.Leu36Pro) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L36P (p.Leu36Pro) variant details
- p.Leu36Pro
- gnomAD 1-16045564-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.69
- CADD 25.90
- PolyPhen-2 0.82
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available