A6S (p.Ala6Ser) variant of E2F1 (Transcription factor E2F1)
A6S (p.Ala6Ser) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- TOPMed rs1467155271
- gnomAD rs1467155271
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.04
- CADD 17.30
- PolyPhen-2 0.06
- SIFT 0.24
- Population evidence available