F93L (p.Phe93Leu) variant of GATA5 (Transcription factor GATA-5)
F93L (p.Phe93Leu) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
F93L (p.Phe93Leu) variant details
- p.Phe93Leu
- TOPMed rs1246629140
- gnomAD rs1246629140
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.43
- MetaLR 0.94
- MetaSVM 0.82
- CADD 22.40
- PolyPhen-2 0.85
- SIFT 0.07
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available