E67G (p.Glu67Gly) variant of SPI1 (Transcription factor PU.1)
E67G (p.Glu67Gly) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Agammaglobulinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E67G (p.Glu67Gly) variant details
- p.Glu67Gly
- TOPMed rs1267689361
- gnomAD rs1267689361
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.05
- MetaLR 0.08
- MetaSVM -1.10
- CADD 24.20
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available