Q3E (p.Gln3Glu) variant of SPI1 (Transcription factor PU.1)
Q3E (p.Gln3Glu) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q3E (p.Gln3Glu) variant details
- p.Gln3Glu
- ExAC rs759759958
- TOPMed rs759759958
- gnomAD rs759759958
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -1.05
- CADD 21.40
- PolyPhen-2 0.08
- SIFT 0.74
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available