P15L (p.Pro15Leu) variant of SPI1 (Transcription factor PU.1)
P15L (p.Pro15Leu) 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.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- TOPMed rs1354674575
- gnomAD rs1354674575
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.10
- MetaLR 0.06
- MetaSVM -1.04
- CADD 24.20
- PolyPhen-2 0.06
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available