S37del (p.Ser37del) variant of AQP5 (Aquaporin-5)

Name: AQP5 S37del (p.Ser37del) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-20
License: https://catvariant.com/terms-of-use

S37del (p.Ser37del) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.

S37del (p.Ser37del) variant details

rs1365565400
gnomAD 12-49962123-CCGT-
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.662
CADD 14.60
Most common in the REMAINING population (allele frequency 1.7e-05)
Structural context available
Literature evidence available