P55T (p.Pro55Thr) variant of SPI1 (Transcription factor PU.1)
P55T (p.Pro55Thr) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P55T (p.Pro55Thr) variant details
- p.Pro55Thr
- TOPMed rs1300739924
- gnomAD rs1300739924
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -0.99
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available