p.Asp2 Trp3insThrThrTyrGlnSerIle variant of GJB6 (Gap junction beta-6 protein)

Name: GJB6 p.Asp2 Trp3insThrThrTyrGlnSerIle variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

p.Asp2 Trp3insThrThrTyrGlnSerIle in GJB6 (Gap junction beta-6 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and published literature.

p.Asp2 Trp3insThrThrTyrGlnSerIle variant details

gnomAD 13-20223474-A-AGG
Stop Gained
Variant Prioritization Score for Impact Estimate 0.65
CADD 26.00
Most common in the Non-Finnish European population (allele frequency 9e-07)
Literature evidence available