G31V (p.Gly31Val) variant of GATA4 (Transcription factor GATA-4)
G31V (p.Gly31Val) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G31V (p.Gly31Val) variant details
- p.Gly31Val
- ExAC rs762079374
- TOPMed rs762079374
- gnomAD rs762079374
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.51
- MetaLR 0.85
- MetaSVM 0.65
- CADD 19.00
- PolyPhen-2 0.20
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available