K34K (p.Lys34Lys) variant of AQP5 (Aquaporin-5)
K34K (p.Lys34Lys) in AQP5 (Aquaporin-5) is a synonymous 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.
K34K (p.Lys34Lys) variant details
- p.Lys34Lys
- rs764870560
- gnomAD 12-49962119-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.41
- CADD 3.66
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available