S198A (p.Ser198Ala) variant of EZH1 (Q92800)
S198A (p.Ser198Ala) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S198A (p.Ser198Ala) variant details
- p.Ser198Ala
- ExAC rs768293257
- TOPMed rs768293257
- gnomAD rs768293257
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.30
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available