p.Ala17dup variant of KDM6A (Lysine-specific demethylase 6A)

Name: KDM6A p.Ala17dup variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

p.Ala17dup in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.

p.Ala17dup variant details

rs1354071758
gnomAD X-44873587-C-CGCT
Inframe Insertion
Variant Prioritization Score for Impact Estimate 0.283
CADD 19.40
Most common in the Non-Finnish European population (allele frequency 1.9e-05)
Structural context available
Literature evidence available