p.Met34 Ile35del variant of GJB2 (Gap junction beta-2 protein)

Name: GJB2 p.Met34 Ile35del variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-18
License: https://catvariant.com/terms-of-use

p.Met34 Ile35del in GJB2 (Gap junction beta-2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.

p.Met34 Ile35del variant details

rs751509573
gnomAD 13-20189477-GATCA
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.304
CADD 18.40
Most common in the Non-Finnish European population (allele frequency 6.3e-06)
Structural context available
Literature evidence available