R4K (p.Arg4Lys) variant of EED (Polycomb protein EED)
R4K (p.Arg4Lys) in EED (Polycomb protein EED) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cohen-Gibson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R4K (p.Arg4Lys) variant details
- p.Arg4Lys
- rs766472086
- ClinGen CA382061035
- ClinVar RCV001309293
- ExAC rs766472086
- Uncertain significance
- Cohen-Gibson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.28
- CADD 22.90
- PolyPhen-2 0.27
- SIFT 0.29
- ClinVar: Uncertain significance (Cohen-Gibson syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: EED-Related Overgrowth. (PMID 30973693)