Q120K (p.Gln120Lys) variant of SPI1 (Transcription factor PU.1)
Q120K (p.Gln120Lys) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
Q120K (p.Gln120Lys) variant details
- p.Gln120Lys
- cosmic curated COSV57045
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.02
- MetaLR 0.07
- MetaSVM -1.06
- CADD 16.60
- PolyPhen-2 0.03
- SIFT 0.31
- Population evidence available
- Structural context available