G20V (p.Gly20Val) variant of GATA5 (Transcription factor GATA-5)
G20V (p.Gly20Val) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- TOPMed rs1394364493
- gnomAD rs1394364493
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.66
- MetaLR 0.94
- MetaSVM 1.07
- CADD 23.30
- PolyPhen-2 0.52
- SIFT 0.02
- Population evidence available
- Structural context available