A9T (p.Ala9Thr) variant of GATA5 (Transcription factor GATA-5)
A9T (p.Ala9Thr) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- 1000Genomes rs532016630
- ExAC rs532016630
- gnomAD rs532016630
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.23
- MetaLR 0.80
- MetaSVM 0.25
- CADD 15.80
- PolyPhen-2 0.02
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available