G5R (p.Gly5Arg) variant of E2F1 (Transcription factor E2F1)
G5R (p.Gly5Arg) in E2F1 (Transcription factor E2F1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- gnomAD rs1329261524
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.04
- CADD 22.20
- PolyPhen-2 0.62
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)