I131S (p.Ile131Ser) variant of EZH2 (Q15910)
I131S (p.Ile131Ser) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Weaver syndrome. The record also includes structural context.
I131S (p.Ile131Ser) variant details
- p.Ile131Ser
- cosmic curated COSV10453
- Uncertain significance
- Weaver syndrome
- Missense
- ClinVar: Uncertain significance (Weaver syndrome)
- UniProt: Uncertain significance
- Structural context available