V49F (p.Val49Phe) variant of EZH1 (Q92800)
V49F (p.Val49Phe) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
V49F (p.Val49Phe) variant details
- p.Val49Phe
- ExAC rs749985288
- gnomAD rs749985288
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.46
- CADD 24.50
- PolyPhen-2 0.56
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available