G89E (p.Gly89Glu) variant of GATA5 (Transcription factor GATA-5)
G89E (p.Gly89Glu) 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.
G89E (p.Gly89Glu) variant details
- p.Gly89Glu
- TOPMed rs1313680998
- gnomAD rs1313680998
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.33
- MetaLR 0.77
- MetaSVM 0.31
- CADD 18.00
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available