P15T (p.Pro15Thr) variant of SPI1 (Transcription factor PU.1)
P15T (p.Pro15Thr) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar 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 0.24 / 1. The record also includes population frequency data and structural context.
P15T (p.Pro15Thr) variant details
- p.Pro15Thr
- ExAC rs771555522
- TOPMed rs771555522
- gnomAD rs771555522
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.06
- MetaLR 0.13
- MetaSVM -0.98
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available