N28I (p.Asn28Ile) variant of EED (Polycomb protein EED)
N28I (p.Asn28Ile) 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.
N28I (p.Asn28Ile) variant details
- p.Asn28Ile
- gnomAD 11-86245312-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.47
- CADD 28.70
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available