L124P (p.Leu124Pro) variant of SPI1 (Transcription factor PU.1)
L124P (p.Leu124Pro) 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 0.31 / 1. The record also includes population frequency data and structural context.
L124P (p.Leu124Pro) variant details
- p.Leu124Pro
- NCI-TCGA Cosmic COSV5704
- cosmic curated COSV57048
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.14
- MetaLR 0.07
- MetaSVM -1.09
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.27
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available