V111I (p.Val111Ile) variant of SPI1 (Transcription factor PU.1)
V111I (p.Val111Ile) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V111I (p.Val111Ile) variant details
- p.Val111Ile
- cosmic curated COSV10505
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.09
- MetaLR 0.17
- MetaSVM -0.87
- CADD 24.10
- PolyPhen-2 0.17
- SIFT 0.33
- Population evidence available
- Structural context available