P7S (p.Pro7Ser) variant of E2F1 (Transcription factor E2F1)
P7S (p.Pro7Ser) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- TOPMed rs1463146837
- gnomAD rs1463146837
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.04
- CADD 16.50
- PolyPhen-2 0.03
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 2.4e-05)