K2K (p.Lys2Lys) variant of AQP5 (Aquaporin-5)
K2K (p.Lys2Lys) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K2K (p.Lys2Lys) variant details
- p.Lys2Lys
- rs1947428637
- gnomAD 12-49962023-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 12.90
- Most common in the East Asian population (allele frequency 3e-05)
- Structural context available
- Literature evidence available