S112T (p.Ser112Thr) variant of SPI1 (Transcription factor PU.1)
S112T (p.Ser112Thr) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
S112T (p.Ser112Thr) variant details
- p.Ser112Thr
- TOPMed rs2095916618
- Missense
- Variant Prioritization Score for Impact Estimate 0.0718
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.02
- CADD 1.23
- PolyPhen-2 0.00
- SIFT 0.74
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available