P15S (p.Pro15Ser) variant of SPI1 (Transcription factor PU.1)
P15S (p.Pro15Ser) 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.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- ExAC rs771555522
- TOPMed rs771555522
- gnomAD rs771555522
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.06
- MetaLR 0.11
- MetaSVM -1.00
- CADD 22.80
- PolyPhen-2 0.09
- SIFT 0.32
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available