P76R (p.Pro76Arg) variant of E2F1 (Transcription factor E2F1)
P76R (p.Pro76Arg) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
P76R (p.Pro76Arg) variant details
- p.Pro76Arg
- TOPMed rs1163948608
- gnomAD rs1163948608
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.02
- CADD 13.10
- Most common in the African/African-American population (allele frequency 7.3e-05)