S17Y (p.Ser17Tyr) variant of SPI1 (Transcription factor PU.1)
S17Y (p.Ser17Tyr) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S17Y (p.Ser17Tyr) variant details
- p.Ser17Tyr
- rs1443116093
- gnomAD 11-47355530-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 13.10
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available