E192K (p.Glu192Lys) variant of EZH1 (Q92800)
E192K (p.Glu192Lys) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E192K (p.Glu192Lys) variant details
- p.Glu192Lys
- Ensembl rs2053682254
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.21
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available