R165Q (p.Arg165Gln) variant of E2F1 (Transcription factor E2F1)
R165Q (p.Arg165Gln) 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 0.78 / 1. The record also includes population frequency data and structural context.
R165Q (p.Arg165Gln) variant details
- p.Arg165Gln
- NCI-TCGA Cosmic COSV5853
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.78
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available