A82T (p.Ala82Thr) variant of E2F1 (Transcription factor E2F1)
A82T (p.Ala82Thr) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
A82T (p.Ala82Thr) variant details
- p.Ala82Thr
- TOPMed rs930265454
- gnomAD rs930265454
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.01
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 7.3e-05)