p.Leu14 Leu21del variant of COL4A3 (Collagen alpha-3(IV) chain)

Name: COL4A3 p.Leu14 Leu21del variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

p.Leu14 Leu21del in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.

p.Leu14 Leu21del variant details

rs876657397
gnomAD 2-227164755-AGGTG
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.243
CADD 15.20
Population evidence available
Structural context available
Cited in: A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. (PMID 23927549)