P23S (p.Pro23Ser) variant of GATA4 (Transcription factor GATA-4)
P23S (p.Pro23Ser) 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 0.38 / 1. The record also includes population frequency data and structural context.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- rs954460490
- ClinGen CA370308715
- ClinVar RCV003642799
- gnomAD rs954460490
- Uncertain significance
- Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.27
- MetaLR 0.80
- MetaSVM 0.18
- CADD 18.40
- PolyPhen-2 0.22
- SIFT 0.43
- ClinVar: Uncertain significance (Atrioventricular septal defect 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available