D19Y (p.Asp19Tyr) variant of SPI1 (Transcription factor PU.1)
D19Y (p.Asp19Tyr) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D19Y (p.Asp19Tyr) variant details
- p.Asp19Tyr
- NCI-TCGA Cosmic COSV5704
- cosmic curated COSV57044
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.22
- MetaLR 0.20
- MetaSVM -0.71
- CADD 28.30
- PolyPhen-2 0.53
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available