p.Ala34dup variant of SUZ12 (Polycomb protein SUZ12)

Name: SUZ12 p.Ala34dup variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

p.Ala34dup in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.

p.Ala34dup variant details

gnomAD 17-31937338-T-TGG
Inframe Insertion
Variant Prioritization Score for Impact Estimate 0.309
CADD 18.70
Most common in the 1KG:CHB population (allele frequency 0.0049)
Structural context available
Literature evidence available