A9V (p.Ala9Val) variant of GATA5 (Transcription factor GATA-5)
A9V (p.Ala9Val) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- 1000Genomes rs564720227
- ExAC rs564720227
- gnomAD rs564720227
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.37
- MetaLR 0.84
- MetaSVM 0.39
- CADD 22.00
- PolyPhen-2 0.15
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available