E44G (p.Glu44Gly) variant of SPI1 (Transcription factor PU.1)
E44G (p.Glu44Gly) 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 0.32 / 1. The record also includes population frequency data and structural context.
E44G (p.Glu44Gly) variant details
- p.Glu44Gly
- ExAC rs747515093
- gnomAD rs747515093
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.11
- MetaLR 0.11
- MetaSVM -1.00
- CADD 28.80
- PolyPhen-2 0.68
- SIFT 0.11
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available