p.His23 Gly29delinsArg variant of PURA (Q00577)

Name: PURA p.His23 Gly29delinsArg variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-13
License: https://catvariant.com/terms-of-use

p.His23 Gly29delinsArg in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.

p.His23 Gly29delinsArg variant details

gnomAD 5-140114248-CACCC
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.652
CADD 20.00
Most common in the Non-Finnish European population (allele frequency 1.1e-06)
Structural context available
Literature evidence available