A15V (p.Ala15Val) variant of E2F1 (Transcription factor E2F1)
A15V (p.Ala15Val) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- gnomAD rs1281052952
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.09
- CADD 14.00
- PolyPhen-2 0.32
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.5e-06)