H16P (p.His16Pro) variant of GJB2 (Gap junction beta-2 protein)

Name: GJB2 H16P (p.His16Pro) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-18
License: https://catvariant.com/terms-of-use

H16P (p.His16Pro) in GJB2 (Gap junction beta-2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.

H16P (p.His16Pro) variant details

p.His16Pro
gnomAD 13-20189531-GGAGT
Frameshift
Variant Prioritization Score for Impact Estimate 0.377
CADD 31.00
Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
Structural context available
Literature evidence available