M100T (p.Met100Thr) variant of SPI1 (Transcription factor PU.1)
M100T (p.Met100Thr) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
M100T (p.Met100Thr) variant details
- p.Met100Thr
- TOPMed rs1209792879
- gnomAD rs1209792879
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.05
- CADD 18.50
- PolyPhen-2 0.02
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available