N133S (p.Asn133Ser) variant of E2F1 (Transcription factor E2F1)
N133S (p.Asn133Ser) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
N133S (p.Asn133Ser) variant details
- p.Asn133Ser
- TOPMed rs1485295370
- gnomAD rs1485295370
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.19
- CADD 23.30
- PolyPhen-2 0.66
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)