S2A (p.Ser2Ala) variant of EED (Polycomb protein EED)
S2A (p.Ser2Ala) 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 0.37 / 1. The record also includes population frequency data and structural context.
S2A (p.Ser2Ala) variant details
- p.Ser2Ala
- ExAC rs745543096
- TOPMed rs745543096
- gnomAD rs745543096
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.19
- CADD 22.90
- PolyPhen-2 0.66
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available