S11P (p.Ser11Pro) variant of CLCNKB (Chloride channel protein ClC-Kb)
S11P (p.Ser11Pro) in CLCNKB (Chloride channel protein ClC-Kb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
S11P (p.Ser11Pro) variant details
- p.Ser11Pro
- gnomAD 1-16044521-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 22.30
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available