L119F (p.Leu119Phe) variant of SPI1 (Transcription factor PU.1)
L119F (p.Leu119Phe) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L119F (p.Leu119Phe) variant details
- p.Leu119Phe
- Ensembl rs1565637989
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -1.01
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available