A70E (p.Ala70Glu) variant of GATA5 (Transcription factor GATA-5)
A70E (p.Ala70Glu) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A70E (p.Ala70Glu) variant details
- p.Ala70Glu
- ExAC rs781793264
- gnomAD rs781793264
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.44
- MetaLR 0.91
- MetaSVM 0.35
- CADD 12.90
- PolyPhen-2 0.10
- SIFT 0.38
- Population evidence available
- Structural context available