R4S (p.Arg4Ser) variant of EED (Polycomb protein EED)
R4S (p.Arg4Ser) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R4S (p.Arg4Ser) variant details
- p.Arg4Ser
- rs548903343
- ExAC rs548903343
- TOPMed rs548903343
- gnomAD rs548903343
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.30
- CADD 24.30
- PolyPhen-2 0.60
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)