P15H (p.Pro15His) variant of GATA4 (Transcription factor GATA-4)
P15H (p.Pro15His) 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 Atrioventricular septal defect 4; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P15H (p.Pro15His) variant details
- p.Pro15His
- rs766466946
- ClinGen CA370308601
- ClinVar RCV003236211
- ClinVar RCV004992587
- Uncertain significance
- Atrioventricular septal defect 4; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.55
- MetaLR 0.12
- MetaSVM -0.96
- CADD 18.70
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Uncertain significance (Atrioventricular septal defect 4; Cardiovascular phenotype; not)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available