G49del (p.Gly49del) variant of AQP2 (Aquaporin-2)

Name: AQP2 G49del (p.Gly49del) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

G49del (p.Gly49del) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.

G49del (p.Gly49del) variant details

rs1354952791
gnomAD 12-49950973-TTGG-
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.558
CADD 16.80
Population evidence available
Structural context available
Literature evidence available