A14P (p.Ala14Pro) variant of GATA5 (Transcription factor GATA-5)
A14P (p.Ala14Pro) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A14P (p.Ala14Pro) variant details
- p.Ala14Pro
- gnomAD rs1555897092
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.18
- MetaLR 0.77
- MetaSVM -0.05
- CADD 11.40
- PolyPhen-2 0.01
- SIFT 0.45
- Population evidence available
- Structural context available