K40K (p.Lys40Lys) variant of CLCNKB (Chloride channel protein ClC-Kb)
K40K (p.Lys40Lys) in CLCNKB (Chloride channel protein ClC-Kb) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K40K (p.Lys40Lys) variant details
- p.Lys40Lys
- rs1187994731
- gnomAD 1-16045577-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.294
- CADD 8.83
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available