G2S (p.Gly2Ser) variant of EZH2 (Q15910)
G2S (p.Gly2Ser) in EZH2 (Q15910) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G2S (p.Gly2Ser) variant details
- p.Gly2Ser
- cosmic curated COSV57446
- TOPMed rs1814403036
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.39
- CADD 22.80
- PolyPhen-2 0.37
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available