L58I (p.Leu58Ile) variant of GATA5 (Transcription factor GATA-5)
L58I (p.Leu58Ile) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L58I (p.Leu58Ile) variant details
- p.Leu58Ile
- TOPMed rs1555897036
- gnomAD rs1555897036
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.25
- MetaLR 0.84
- MetaSVM 0.26
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available