E67Q (p.Glu67Gln) variant of SPI1 (Transcription factor PU.1)
E67Q (p.Glu67Gln) 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 0.35 / 1. The record also includes population frequency data and structural context.
E67Q (p.Glu67Gln) variant details
- p.Glu67Gln
- TOPMed rs1436543048
- gnomAD rs1436543048
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.10
- MetaLR 0.14
- MetaSVM -0.96
- CADD 23.70
- PolyPhen-2 0.59
- SIFT 0.24
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Population evidence available
- Structural context available