V76M (p.Val76Met) variant of SPI1 (Transcription factor PU.1)
V76M (p.Val76Met) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V76M (p.Val76Met) variant details
- p.Val76Met
- cosmic curated COSV57044
- gnomAD rs1348395847
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.18
- MetaLR 0.18
- MetaSVM -0.65
- CADD 26.10
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available