A24del (p.Ala24del) variant of COL4A3 (Collagen alpha-3(IV) chain)

Name: COL4A3 A24del (p.Ala24del) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

A24del (p.Ala24del) 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.

A24del (p.Ala24del) variant details

rs2065150724
gnomAD 2-227164788-TGGC-
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.61
CADD 21.40
Most common in the REMAINING population (allele frequency 0.00048)
Structural context available
Literature evidence available