E67K (p.Glu67Lys) variant of SPI1 (Transcription factor PU.1)
E67K (p.Glu67Lys) 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.
E67K (p.Glu67Lys) variant details
- p.Glu67Lys
- cosmic curated COSV99908
- TOPMed rs1436543048
- gnomAD rs1436543048
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.11
- MetaLR 0.11
- MetaSVM -0.99
- CADD 23.80
- PolyPhen-2 0.21
- SIFT 0.32
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available