P23T (p.Pro23Thr) variant of GATA4 (Transcription factor GATA-4)
P23T (p.Pro23Thr) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GATA4-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P23T (p.Pro23Thr) variant details
- p.Pro23Thr
- gnomAD rs954460490
- Uncertain significance
- GATA4-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.35
- MetaLR 0.90
- MetaSVM 0.61
- CADD 22.10
- PolyPhen-2 0.76
- SIFT 0.38
- ClinVar: Uncertain significance (GATA4-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available