K61R (p.Lys61Arg) variant of EZH2 (Q15910)
K61R (p.Lys61Arg) 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; not provided. The record also includes published literature and structural context.
K61R (p.Lys61Arg) variant details
- p.Lys61Arg
- rs2537876792
- ClinGen CA369708214
- ClinVar RCV003457524
- ClinVar RCV005100118
- Uncertain significance
- Weaver syndrome; not provided
- Missense
- ClinVar: Uncertain significance (Weaver syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)