S125T (p.Ser125Thr) variant of SPI1 (Transcription factor PU.1)
S125T (p.Ser125Thr) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
S125T (p.Ser125Thr) variant details
- p.Ser125Thr
- NCI-TCGA Cosmic COSV5704
- NCI-TCGA Cosmic COSV9990
- cosmic curated COSV99908
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.07
- MetaLR 0.11
- MetaSVM -0.97
- CADD 22.00
- PolyPhen-2 0.09
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available