L107F (p.Leu107Phe) variant of SPI1 (Transcription factor PU.1)
L107F (p.Leu107Phe) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L107F (p.Leu107Phe) variant details
- p.Leu107Phe
- NCI-TCGA Cosmic COSV9990
- cosmic curated COSV99908
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.09
- MetaLR 0.12
- MetaSVM -0.95
- CADD 22.70
- PolyPhen-2 0.37
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.2e-05)
- Structural context available