D26E (p.Asp26Glu) variant of SPI1 (Transcription factor PU.1)
D26E (p.Asp26Glu) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
D26E (p.Asp26Glu) variant details
- p.Asp26Glu
- ExAC rs773070296
- gnomAD rs773070296
- Missense
- Variant Prioritization Score for Impact Estimate 0.0762
- REVEL 0.03
- MetaLR 0.02
- MetaSVM -0.95
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available