H59Y (p.His59Tyr) variant of SPI1 (Transcription factor PU.1)
H59Y (p.His59Tyr) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
H59Y (p.His59Tyr) variant details
- p.His59Tyr
- cosmic curated COSV99909
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.19
- MetaLR 0.07
- MetaSVM -1.08
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available