S43R (p.Ser43Arg) variant of E2F1 (Transcription factor E2F1)
S43R (p.Ser43Arg) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
S43R (p.Ser43Arg) variant details
- p.Ser43Arg
- TOPMed rs1011962033
- gnomAD rs1011962033
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.01
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the African/African-American population (allele frequency 2.4e-05)