G43R (p.Gly43Arg) variant of SPI1 (Transcription factor PU.1)
G43R (p.Gly43Arg) 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 0.36 / 1. The record also includes population frequency data and structural context.
G43R (p.Gly43Arg) variant details
- p.Gly43Arg
- TOPMed rs1162782657
- gnomAD rs1162782657
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.10
- MetaLR 0.11
- MetaSVM -1.06
- CADD 28.50
- PolyPhen-2 0.08
- SIFT 0.04
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available