P105H (p.Pro105His) variant of SPI1 (Transcription factor PU.1)
P105H (p.Pro105His) 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 0.25 / 1. The record also includes population frequency data and structural context.
P105H (p.Pro105His) variant details
- p.Pro105His
- TOPMed rs1364515194
- gnomAD rs1364515194
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.05
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available