M27I (p.Met27Ile) variant of GATA4 (Transcription factor GATA-4)
M27I (p.Met27Ile) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
M27I (p.Met27Ile) variant details
- p.Met27Ile
- TOPMed rs1799994007
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.60
- MetaLR 0.83
- MetaSVM 0.65
- CADD 23.00
- PolyPhen-2 0.52
- SIFT 0.29
- Population evidence available
- Structural context available