R4M (p.Arg4Met) variant of EED (Polycomb protein EED)
R4M (p.Arg4Met) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R4M (p.Arg4Met) variant details
- p.Arg4Met
- rs766472086
- ClinGen CA6216283
- cosmic curated COSV54553
- ClinVar RCV002975899
- Uncertain significance
- Cohen-Gibson syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.33
- CADD 24.90
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (Cohen-Gibson syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: EED-Related Overgrowth. (PMID 30973693)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)