G30G (p.Gly30Gly) variant of AQP5 (Aquaporin-5)
G30G (p.Gly30Gly) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G30G (p.Gly30Gly) variant details
- p.Gly30Gly
- rs759929671
- gnomAD 12-49962107-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 8.46
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available