D42E (p.Asp42Glu) variant of SPI1 (Transcription factor PU.1)
D42E (p.Asp42Glu) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D42E (p.Asp42Glu) variant details
- p.Asp42Glu
- TOPMed rs189217391
- gnomAD rs189217391
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.07
- MetaLR 0.12
- MetaSVM -0.99
- CADD 23.90
- PolyPhen-2 0.41
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available