C12S (p.Cys12Ser) variant of E2F1 (Transcription factor E2F1)
C12S (p.Cys12Ser) in E2F1 (Transcription factor E2F1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data.
C12S (p.Cys12Ser) variant details
- p.Cys12Ser
- rs574523664
- ClinGen CA9818818
- ClinVar RCV000904208
- 1000Genomes rs574523664
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.01
- CADD 10.70
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CDX population (allele frequency 0.057)