M7I (p.Met7Ile) variant of GATA4 (Transcription factor GATA-4)
M7I (p.Met7Ile) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
M7I (p.Met7Ile) variant details
- p.Met7Ile
- gnomAD rs1161609876
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.72
- MetaLR 0.12
- MetaSVM -1.01
- CADD 23.70
- PolyPhen-2 0.93
- SIFT 0.51
- Population evidence available
- Structural context available