R73Q (p.Arg73Gln) variant of E2F1 (Transcription factor E2F1)
R73Q (p.Arg73Gln) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
R73Q (p.Arg73Gln) variant details
- p.Arg73Gln
- gnomAD rs2018065906
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.13
- CADD 17.30
- PolyPhen-2 0.28
- SIFT 0.37
- Most common in the South Asian population (allele frequency 0.00011)