G54G (p.Gly54Gly) variant of AQP5 (Aquaporin-5)
G54G (p.Gly54Gly) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G54G (p.Gly54Gly) variant details
- p.Gly54Gly
- gnomAD 12-49962179-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.21
- CADD 7.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available