V5L (p.Val5Leu) variant of CLCNKB (Chloride channel protein ClC-Kb)
V5L (p.Val5Leu) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- gnomAD 1-16044505-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.38
- CADD 23.80
- PolyPhen-2 0.58
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available