G16R (p.Gly16Arg) variant of GATA4 (Transcription factor GATA-4)
G16R (p.Gly16Arg) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- 1000Genomes rs533331682
- TOPMed rs533331682
- gnomAD rs533331682
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.53
- MetaLR 0.89
- MetaSVM 0.50
- CADD 23.20
- PolyPhen-2 0.95
- SIFT 0.37
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available