R116Q (p.Arg116Gln) variant of SPI1 (Transcription factor PU.1)
R116Q (p.Arg116Gln) 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.
R116Q (p.Arg116Gln) variant details
- p.Arg116Gln
- ExAC rs769953805
- TOPMed rs769953805
- gnomAD rs769953805
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.07
- MetaLR 0.16
- MetaSVM -0.94
- CADD 25.60
- PolyPhen-2 0.34
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available