A67P (p.Ala67Pro) variant of E2F1 (Transcription factor E2F1)
A67P (p.Ala67Pro) in E2F1 (Transcription factor E2F1) is a missense change. Clinical records from ClinVar, EBI, 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 0.35 / 1. The record also includes population frequency data.
A67P (p.Ala67Pro) variant details
- p.Ala67Pro
- rs2515398681
- ClinGen CA408655131
- ClinVar RCV004298861
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.10
- CADD 24.00
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available