E91K (p.Glu91Lys) variant of SPI1 (Transcription factor PU.1)
E91K (p.Glu91Lys) in SPI1 (Transcription factor PU.1) is a missense change. 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.
E91K (p.Glu91Lys) variant details
- p.Glu91Lys
- cosmic curated COSV57047
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.13
- MetaLR 0.11
- MetaSVM -1.02
- CADD 26.70
- PolyPhen-2 0.22
- SIFT 0.02
- Population evidence available
- Structural context available