A60E (p.Ala60Glu) variant of GATA5 (Transcription factor GATA-5)
A60E (p.Ala60Glu) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A60E (p.Ala60Glu) variant details
- p.Ala60Glu
- TOPMed rs1410475805
- gnomAD rs1410475805
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.29
- MetaLR 0.81
- MetaSVM 0.37
- CADD 13.90
- PolyPhen-2 0.15
- SIFT 0.04
- Population evidence available
- Structural context available