N194S (p.Asn194Ser) variant of EED (Polycomb protein EED)
N194S (p.Asn194Ser) in EED (Polycomb protein EED) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cohen-Gibson syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and published literature.
N194S (p.Asn194Ser) variant details
- p.Asn194Ser
- rs1945710855
- ClinGen CA382004235
- cosmic curated COSV99646
- ClinVar RCV002273048
- Pathogenic/Likely pathogenic
- Cohen-Gibson syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.45
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cohen-Gibson syndrome; not provided)
- EBI: Pathogenic (in COGIS)
- UniProt: Pathogenic (in COGIS)
- Most common in the African/African-American population (allele frequency 0.00041)
- Cited in: Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. (PMID 28475857)
- Cited in: EED-Related Overgrowth. (PMID 30973693)