C12R (p.Cys12Arg) variant of E2F1 (Transcription factor E2F1)
C12R (p.Cys12Arg) in E2F1 (Transcription factor E2F1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data.
C12R (p.Cys12Arg) variant details
- p.Cys12Arg
- 1000Genomes rs574523664
- ExAC rs574523664
- TOPMed rs574523664
- gnomAD rs574523664
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.03
- CADD 15.80
- PolyPhen-2 0.03
- SIFT 0.41
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.0002)