S2T (p.Ser2Thr) variant of EED (Polycomb protein EED)
S2T (p.Ser2Thr) in EED (Polycomb protein EED) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S2T (p.Ser2Thr) variant details
- p.Ser2Thr
- ExAC rs745543096
- TOPMed rs745543096
- gnomAD rs745543096
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.27
- CADD 22.70
- PolyPhen-2 0.83
- SIFT 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available