C118F (p.Cys118Phe) variant of SPI1 (Transcription factor PU.1)
C118F (p.Cys118Phe) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
C118F (p.Cys118Phe) variant details
- p.Cys118Phe
- cosmic curated COSV99909
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.07
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available