H194Y (p.His194Tyr) variant of E2F1 (Transcription factor E2F1)
H194Y (p.His194Tyr) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
H194Y (p.His194Tyr) variant details
- p.His194Tyr
- ExAC rs770049550
- gnomAD rs770049550
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.06
- CADD 18.90
- PolyPhen-2 0.16
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)