E63G (p.Glu63Gly) variant of SPI1 (Transcription factor PU.1)
E63G (p.Glu63Gly) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. 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.
E63G (p.Glu63Gly) variant details
- p.Glu63Gly
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.23
- MetaLR 0.14
- MetaSVM -0.87
- CADD 24.50
- PolyPhen-2 0.79
- SIFT 0.03
- UniProt: Variant assessed as somatic; high impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available