K40del (p.Lys40del) variant of COL6A2 (Collagen alpha-2(VI) chain)

Name: COL6A2 K40del (p.Lys40del) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-22
License: https://catvariant.com/terms-of-use

K40del (p.Lys40del) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.

K40del (p.Lys40del) variant details

gnomAD 21-46111978-GAGA-
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.77
CADD 24.20
Most common in the East Asian population (allele frequency 2.5e-05)
Structural context available
Literature evidence available