H33Y (p.His33Tyr) variant of SPI1 (Transcription factor PU.1)
H33Y (p.His33Tyr) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
H33Y (p.His33Tyr) variant details
- p.His33Tyr
- rs2495842567
- ClinGen CA380359091
- ClinVar RCV004464953
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.18
- MetaLR 0.08
- MetaSVM -1.01
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available