S34P (p.Ser34Pro) variant of EED (Polycomb protein EED)
S34P (p.Ser34Pro) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S34P (p.Ser34Pro) variant details
- p.Ser34Pro
- gnomAD 11-86245329-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.46
- CADD 31.00
- PolyPhen-2 0.60
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available