G110D (p.Gly110Asp) variant of GATA5 (Transcription factor GATA-5)
G110D (p.Gly110Asp) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G110D (p.Gly110Asp) variant details
- p.Gly110Asp
- TOPMed rs1989823586
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.34
- MetaLR 0.83
- MetaSVM 0.34
- CADD 2.29
- PolyPhen-2 0.41
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available