P15S (p.Pro15Ser) variant of GATA4 (Transcription factor GATA-4)
P15S (p.Pro15Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- rs1799990782
- ClinGen CA370308599
- ClinVar RCV001312530
- Ensembl rs1799990782
- Uncertain significance
- Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.33
- MetaLR 0.85
- MetaSVM 0.51
- CADD 15.50
- PolyPhen-2 0.11
- SIFT 0.14
- ClinVar: Uncertain significance (Atrioventricular septal defect 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available