E24del (p.Glu24del) variant of COL6A2 (Collagen alpha-2(VI) chain)

Name: COL6A2 E24del (p.Glu24del) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-22
License: https://catvariant.com/terms-of-use

E24del (p.Glu24del) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.

E24del (p.Glu24del) variant details

gnomAD 21-46111543-CAGG-
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.582
CADD 16.40
Population evidence available
Structural context available
Literature evidence available