H97Y (p.His97Tyr) variant of GATA5 (Transcription factor GATA-5)
H97Y (p.His97Tyr) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
H97Y (p.His97Tyr) variant details
- p.His97Tyr
- TOPMed rs1989825529
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.37
- MetaLR 0.94
- MetaSVM 1.15
- CADD 19.40
- PolyPhen-2 0.92
- SIFT 0.50
- Population evidence available
- Structural context available