G60G (p.Gly60Gly) variant of AQP2 (Aquaporin-2)
G60G (p.Gly60Gly) in AQP2 (Aquaporin-2) 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.
G60G (p.Gly60Gly) variant details
- p.Gly60Gly
- rs370848842
- gnomAD 12-49951010-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 5.72
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available