R138C (p.Arg138Cys) variant of E2F1 (Transcription factor E2F1)
R138C (p.Arg138Cys) 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 0.60 / 1. The record also includes population frequency data.
R138C (p.Arg138Cys) variant details
- p.Arg138Cys
- NCI-TCGA Cosmic COSV5853
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.44
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)