A82S (p.Ala82Ser) variant of E2F1 (Transcription factor E2F1)
A82S (p.Ala82Ser) in E2F1 (Transcription factor E2F1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
A82S (p.Ala82Ser) variant details
- p.Ala82Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.01
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available