H56Y (p.His56Tyr) variant of SPI1 (Transcription factor PU.1)
H56Y (p.His56Tyr) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
H56Y (p.His56Tyr) variant details
- p.His56Tyr
- ExAC rs745879794
- TOPMed rs745879794
- gnomAD rs745879794
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.06
- MetaLR 0.09
- MetaSVM -0.96
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.8e-05)
- Structural context available