P122T (p.Pro122Thr) variant of SPI1 (Transcription factor PU.1)
P122T (p.Pro122Thr) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P122T (p.Pro122Thr) variant details
- p.Pro122Thr
- TOPMed rs1417095568
- gnomAD rs1417095568
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.14
- MetaLR 0.28
- MetaSVM -0.80
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available