K19R (p.Lys19Arg) variant of EED (Polycomb protein EED)
K19R (p.Lys19Arg) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
K19R (p.Lys19Arg) variant details
- p.Lys19Arg
- 1000Genomes rs199943809
- ExAC rs199943809
- TOPMed rs199943809
- gnomAD rs199943809
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.38
- CADD 25.70
- PolyPhen-2 0.90
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available