G21R (p.Gly21Arg) variant of E2F1 (Transcription factor E2F1)
G21R (p.Gly21Arg) 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 0.28 / 1. The record also includes population frequency data.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- rs1019744956
- ClinGen CA313290970
- ClinVar RCV004104236
- TOPMed rs1019744956
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.05
- CADD 20.10
- PolyPhen-2 0.28
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-05)