S193R (p.Ser193Arg) variant of E2F1 (Transcription factor E2F1)
S193R (p.Ser193Arg) 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 0.16 / 1. The record also includes population frequency data.
S193R (p.Ser193Arg) variant details
- p.Ser193Arg
- TOPMed rs1315185562
- gnomAD rs1315185562
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.05
- CADD 13.80
- PolyPhen-2 0.25
- SIFT 0.52
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)