p.Thr55 Leu56delinsMet variant of GJB6 (Gap junction beta-6 protein)

Name: GJB6 p.Thr55 Leu56delinsMet variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

p.Thr55 Leu56delinsMet in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.

p.Thr55 Leu56delinsMet variant details

gnomAD 13-20223314-AGTG-
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.573
CADD 19.40
Population evidence available
Literature evidence available