Q50R (p.Gln50Arg) variant of EZH1 (Q92800)
Q50R (p.Gln50Arg) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q50R (p.Gln50Arg) variant details
- p.Gln50Arg
- gnomAD rs1349278047
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.28
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.51
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available