E3Q (p.Glu3Gln) variant of EED (Polycomb protein EED)
E3Q (p.Glu3Gln) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E3Q (p.Glu3Gln) variant details
- p.Glu3Gln
- gnomAD rs1310112307
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.24
- CADD 31.00
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available