T25M (p.Thr25Met) variant of SPI1 (Transcription factor PU.1)
T25M (p.Thr25Met) 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 0.37 / 1. The record also includes population frequency data and structural context.
T25M (p.Thr25Met) variant details
- p.Thr25Met
- NCI-TCGA Cosmic COSV5704
- cosmic curated COSV57048
- TOPMed rs2095941375
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.15
- MetaLR 0.11
- MetaSVM -1.03
- CADD 23.60
- PolyPhen-2 0.35
- SIFT 0.05
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available