P13S (p.Pro13Ser) variant of GATA4 (Transcription factor GATA-4)
P13S (p.Pro13Ser) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar 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 0.62 / 1. The record also includes population frequency data and structural context.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- Ensembl rs1799989962
- Uncertain significance
- Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.62
- MetaLR 0.93
- MetaSVM 1.01
- CADD 20.30
- PolyPhen-2 0.38
- SIFT 0.05
- ClinVar: Uncertain significance (Atrioventricular septal defect 4)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available