T98I (p.Thr98Ile) variant of SPI1 (Transcription factor PU.1)
T98I (p.Thr98Ile) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T98I (p.Thr98Ile) variant details
- p.Thr98Ile
- rs138934569
- ClinGen CA5975528
- ClinVar RCV004464954
- ClinVar RCV005230627
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.02
- MetaLR 0.06
- MetaSVM -1.05
- CADD 21.40
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available