L96F (p.Leu96Phe) variant of SPI1 (Transcription factor PU.1)
L96F (p.Leu96Phe) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L96F (p.Leu96Phe) variant details
- p.Leu96Phe
- TOPMed rs1256771543
- gnomAD rs1256771543
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.07
- MetaLR 0.19
- MetaSVM -0.78
- CADD 25.10
- PolyPhen-2 0.83
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available