R116W (p.Arg116Trp) variant of SPI1 (Transcription factor PU.1)
R116W (p.Arg116Trp) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Agammaglobulinemia 10, autosomal dominant. 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.
R116W (p.Arg116Trp) variant details
- p.Arg116Trp
- TOPMed rs1338958161
- gnomAD rs1338958161
- Uncertain significance
- Agammaglobulinemia 10, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.18
- MetaLR 0.16
- MetaSVM -0.89
- CADD 30.00
- PolyPhen-2 0.68
- SIFT 0.00
- ClinVar: Uncertain significance (Agammaglobulinemia 10, autosomal dominant)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.1e-05)
- Structural context available