A23L (p.Ala23Leu) variant of GUCY2D (Retinal guanylyl cyclase 1)

Name: GUCY2D A23L (p.Ala23Leu) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

A23L (p.Ala23Leu) in GUCY2D (Retinal guanylyl cyclase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.

A23L (p.Ala23Leu) variant details

p.Ala23Leu
gnomAD 17-8003111-TG-T
Frameshift
Variant Prioritization Score for Impact Estimate 0.241
CADD 22.70
Population evidence available
Structural context available
Literature evidence available