G20C (p.Gly20Cys) variant of GATA5 (Transcription factor GATA-5)
G20C (p.Gly20Cys) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G20C (p.Gly20Cys) variant details
- p.Gly20Cys
- TOPMed rs1989836166
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.62
- MetaLR 0.95
- MetaSVM 1.05
- CADD 23.10
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available