E67D (p.Glu67Asp) variant of SPI1 (Transcription factor PU.1)
E67D (p.Glu67Asp) 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 0.31 / 1. The record also includes population frequency data and structural context.
E67D (p.Glu67Asp) variant details
- p.Glu67Asp
- TOPMed rs1249261264
- gnomAD rs1249261264
- NCI-TCGA Cosmic COSV5704
- cosmic curated COSV57044
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.06
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.57
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Population evidence available
- Structural context available