G16S (p.Gly16Ser) variant of GATA4 (Transcription factor GATA-4)
G16S (p.Gly16Ser) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G16S (p.Gly16Ser) variant details
- p.Gly16Ser
- 1000Genomes rs533331682
- TOPMed rs533331682
- gnomAD rs533331682
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.42
- MetaLR 0.87
- MetaSVM 0.42
- CADD 17.10
- PolyPhen-2 0.17
- SIFT 0.81
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available