R90W (p.Arg90Trp) variant of E2F1 (Transcription factor E2F1)
R90W (p.Arg90Trp) in E2F1 (Transcription factor E2F1) 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 0.39 / 1. The record also includes population frequency data and structural context.
R90W (p.Arg90Trp) variant details
- p.Arg90Trp
- NCI-TCGA Cosmic COSV5853
- TOPMed rs2018006865
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.21
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available