R202W (p.Arg202Trp) variant of E2F1 (Transcription factor E2F1)
R202W (p.Arg202Trp) 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.
R202W (p.Arg202Trp) variant details
- p.Arg202Trp
- rs377637237
- ESP rs377637237
- ExAC rs377637237
- TOPMed rs377637237
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.35
- CADD 23.20
- PolyPhen-2 0.78
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 6e-05)