E103K (p.Glu103Lys) variant of E2F1 (Transcription factor E2F1)
E103K (p.Glu103Lys) in E2F1 (Transcription factor E2F1) is a missense change. Clinical records from ClinVar 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 0.37 / 1. The record also includes population frequency data.
E103K (p.Glu103Lys) variant details
- p.Glu103Lys
- ExAC rs747305116
- TOPMed rs747305116
- gnomAD rs747305116
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.10
- CADD 23.60
- PolyPhen-2 0.21
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)