A6E (p.Ala6Glu) variant of GATA5 (Transcription factor GATA-5)
A6E (p.Ala6Glu) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
A6E (p.Ala6Glu) variant details
- p.Ala6Glu
- ExAC rs782762414
- TOPMed rs782762414
- gnomAD rs782762414
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.71
- MetaLR 0.96
- MetaSVM 1.11
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available