P48S (p.Pro48Ser) variant of E2F1 (Transcription factor E2F1)
P48S (p.Pro48Ser) 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.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- TOPMed rs1354620926
- gnomAD rs1354620926
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.03
- CADD 15.00
- PolyPhen-2 0.03
- SIFT 0.30
- Most common in the South Asian population (allele frequency 0.00021)