E63Q (p.Glu63Gln) variant of SPI1 (Transcription factor PU.1)
E63Q (p.Glu63Gln) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E63Q (p.Glu63Gln) variant details
- p.Glu63Gln
- ExAC rs766172098
- TOPMed rs766172098
- gnomAD rs766172098
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.18
- MetaLR 0.18
- MetaSVM -0.78
- CADD 25.40
- PolyPhen-2 0.95
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1e-05)
- Structural context available