R409W (p.Arg409Trp) variant of KMT2E (Histone reader KMT2E)
R409W (p.Arg409Trp) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of O'Donnell-Luria-Rodan syndrome. The record also includes structural context.
R409W (p.Arg409Trp) variant details
- p.Arg409Trp
- rs1421636564
- NCI-TCGA Cosmic COSV5757
- cosmic curated COSV57577
- Likely pathogenic
- O'Donnell-Luria-Rodan syndrome
- Missense
- ClinVar: Likely pathogenic (O'Donnell-Luria-Rodan syndrome)
- UniProt: Likely pathogenic
- Structural context available