G31S (p.Gly31Ser) variant of GATA4 (Transcription factor GATA-4)
G31S (p.Gly31Ser) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G31S (p.Gly31Ser) variant details
- p.Gly31Ser
- ExAC rs774778737
- gnomAD rs774778737
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.34
- MetaLR 0.80
- MetaSVM 0.35
- CADD 16.90
- PolyPhen-2 0.02
- SIFT 0.77
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available