A147V (p.Ala147Val) variant of E2F1 (Transcription factor E2F1)
A147V (p.Ala147Val) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
A147V (p.Ala147Val) variant details
- p.Ala147Val
- ExAC rs751015434
- TOPMed rs751015434
- gnomAD rs751015434
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.20
- CADD 24.30
- PolyPhen-2 0.64
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)