P22S (p.Pro22Ser) variant of SPI1 (Transcription factor PU.1)
P22S (p.Pro22Ser) 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 0.10 / 1. The record also includes population frequency data and structural context.
P22S (p.Pro22Ser) variant details
- p.Pro22Ser
- gnomAD rs2095941390
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.0983
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.00
- CADD 9.51
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available