G179S (p.Gly179Ser) variant of EZH2 (Q15910)
G179S (p.Gly179Ser) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
G179S (p.Gly179Ser) variant details
- p.Gly179Ser
- rs1808496051
- ClinGen CA369720565
- ClinVar RCV003612410
- Uncertain significance
- Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- AlphaMissense 0.53
- MetaLR 0.25
- MetaSVM -0.63
- PolyPhen-2 0.04
- SIFT 0.36
- EVE 0.24
- ClinVar: Uncertain significance (Weaver syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)