F95L (p.Phe95Leu) variant of GATA5 (Transcription factor GATA-5)
F95L (p.Phe95Leu) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
F95L (p.Phe95Leu) variant details
- p.Phe95Leu
- rs1036595030
- ClinGen CA317288593
- ClinVar RCV002033693
- TOPMed rs1036595030
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.39
- MetaLR 0.87
- MetaSVM 0.43
- CADD 12.80
- PolyPhen-2 0.14
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available