p.Leu18 Leu21del variant of COL4A3 (Collagen alpha-3(IV) chain)

Name: COL4A3 p.Leu18 Leu21del variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

p.Leu18 Leu21del in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.

p.Leu18 Leu21del variant details

rs940074065
gnomAD 2-227164770-CGCTC
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.195
CADD 16.10
Most common in the South Asian population (allele frequency 0.00021)
Structural context available
Literature evidence available