S2Y (p.Ser2Tyr) variant of EED (Polycomb protein EED)
S2Y (p.Ser2Tyr) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S2Y (p.Ser2Tyr) variant details
- p.Ser2Tyr
- TOPMed rs1371238695
- gnomAD rs1371238695
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.34
- CADD 26.10
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available