R116L (p.Arg116Leu) variant of SPI1 (Transcription factor PU.1)
R116L (p.Arg116Leu) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R116L (p.Arg116Leu) variant details
- p.Arg116Leu
- cosmic curated COSV99909
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.10
- MetaLR 0.12
- MetaSVM -1.03
- CADD 25.50
- PolyPhen-2 0.03
- SIFT 0.03
- Population evidence available
- Structural context available