H109Q (p.His109Gln) variant of SPI1 (Transcription factor PU.1)
H109Q (p.His109Gln) 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 0.27 / 1. The record also includes population frequency data and structural context.
H109Q (p.His109Gln) variant details
- p.His109Gln
- TOPMed rs1050233603
- gnomAD rs1050233603
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.09
- MetaLR 0.09
- MetaSVM -1.06
- CADD 21.80
- PolyPhen-2 0.05
- SIFT 0.76
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Population evidence available
- Structural context available