p.Pro15dup variant of GATA4 (Transcription factor GATA-4)

Name: GATA4 p.Pro15dup variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-22
License: https://catvariant.com/terms-of-use

p.Pro15dup in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.

p.Pro15dup variant details

rs1286102046
gnomAD 8-11708347-G-GGCC
Inframe Insertion
Variant Prioritization Score for Impact Estimate 0.482
CADD 19.30
Most common in the HGDP:MAKRANI population (allele frequency 0.023)
Structural context available
Literature evidence available