F70L (p.Phe70Leu) variant of SPI1 (Transcription factor PU.1)
F70L (p.Phe70Leu) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
F70L (p.Phe70Leu) variant details
- p.Phe70Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.08
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.58
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available