R202Q (p.Arg202Gln) variant of E2F1 (Transcription factor E2F1)
R202Q (p.Arg202Gln) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
R202Q (p.Arg202Gln) variant details
- p.Arg202Gln
- ESP rs373902244
- ExAC rs373902244
- TOPMed rs373902244
- gnomAD rs373902244
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.15
- CADD 8.68
- PolyPhen-2 0.01
- SIFT 0.60
- Most common in the East Asian population (allele frequency 0.00038)