A17V (p.Ala17Val) variant of EED (Polycomb protein EED)
A17V (p.Ala17Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- rs1945363239
- ClinGen CA382061105
- ClinVar RCV001258333
- ClinVar RCV003393928
- Uncertain significance
- Cohen-Gibson syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.14
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Cohen-Gibson syndrome; not provided)
- 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)