K48E (p.Lys48Glu) variant of EZH1 (Q92800)
K48E (p.Lys48Glu) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
K48E (p.Lys48Glu) variant details
- p.Lys48Glu
- gnomAD rs1267102173
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.60
- CADD 23.20
- PolyPhen-2 0.44
- SIFT 0.25
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available