A53V (p.Ala53Val) variant of E2F1 (Transcription factor E2F1)
A53V (p.Ala53Val) 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 0.10 / 1. The record also includes population frequency data.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- TOPMed rs2018066720
- gnomAD rs2018066720
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.01
- CADD 7.89
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)