A378V (p.Ala378Val) variant of EED (Polycomb protein EED)
A378V (p.Ala378Val) in EED (Polycomb protein EED) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cohen-Gibson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.
A378V (p.Ala378Val) variant details
- p.Ala378Val
- rs1593776227
- ClinGen CA382007922
- ClinVar RCV000988621
- Ensembl rs1593776227
- Likely pathogenic
- Cohen-Gibson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.40
- CADD 27.70
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Likely pathogenic (Cohen-Gibson syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Cited in: EED-Related Overgrowth. (PMID 30973693)