R18H (p.Arg18His) variant of EZH2 (Q15910)
R18H (p.Arg18His) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Weaver syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R18H (p.Arg18His) variant details
- p.Arg18His
- cosmic curated COSV10023
- Ensembl rs2129485381
- Uncertain significance
- Weaver syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.47
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (Weaver syndrome; not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available