P116S (p.Pro116Ser) variant of EZH1 (Q92800)
P116S (p.Pro116Ser) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
P116S (p.Pro116Ser) variant details
- p.Pro116Ser
- gnomAD rs2053774861
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.83
- CADD 24.20
- PolyPhen-2 0.72
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available