P51T (p.Pro51Thr) variant of E2F1 (Transcription factor E2F1)
P51T (p.Pro51Thr) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
P51T (p.Pro51Thr) variant details
- p.Pro51Thr
- gnomAD rs2018066836
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.03
- CADD 12.10
- PolyPhen-2 0.35
- SIFT 0.21
- Most common in the East Asian population (allele frequency 0.0002)