p.Ala24dup variant of COL4A3 (Collagen alpha-3(IV) chain)

Name: COL4A3 p.Ala24dup variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

p.Ala24dup in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.

p.Ala24dup variant details

gnomAD 2-227164788-T-TGG
Inframe Insertion
Variant Prioritization Score for Impact Estimate 0.613
CADD 21.60
Most common in the Non-Finnish European population (allele frequency 9.3e-07)
Structural context available
Literature evidence available