S2C (p.Ser2Cys) variant of EED (Polycomb protein EED)
S2C (p.Ser2Cys) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S2C (p.Ser2Cys) variant details
- p.Ser2Cys
- gnomAD 11-86245234-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.28
- CADD 26.70
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available