N30S (p.Asn30Ser) variant of EED (Polycomb protein EED)
N30S (p.Asn30Ser) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N30S (p.Asn30Ser) variant details
- p.Asn30Ser
- gnomAD 11-86245318-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.34
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available