R127H (p.Arg127His) variant of E2F1 (Transcription factor E2F1)
R127H (p.Arg127His) 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 0.72 / 1. The record also includes population frequency data.
R127H (p.Arg127His) variant details
- p.Arg127His
- NCI-TCGA Cosmic COSV1005
- NCI-TCGA Cosmic COSV5853
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.65
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)