A90V (p.Ala90Val) variant of GATA5 (Transcription factor GATA-5)
A90V (p.Ala90Val) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A90V (p.Ala90Val) variant details
- p.Ala90Val
- TOPMed rs1989826527
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.27
- MetaLR 0.79
- MetaSVM 0.24
- CADD 16.40
- PolyPhen-2 0.20
- SIFT 0.10
- Population evidence available
- Structural context available