L2F (p.Leu2Phe) variant of SPI1 (Transcription factor PU.1)
L2F (p.Leu2Phe) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L2F (p.Leu2Phe) variant details
- p.Leu2Phe
- TOPMed rs1032809675
- gnomAD rs1032809675
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.01
- MetaLR 0.04
- MetaSVM -1.05
- CADD 22.90
- PolyPhen-2 0.08
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available