R598G (p.Arg598Gly) variant of KMT2E (Histone reader KMT2E)
R598G (p.Arg598Gly) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of O'Donnell-Luria-Rodan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R598G (p.Arg598Gly) variant details
- p.Arg598Gly
- rs2129569484
- ClinGen CA368784293
- ClinVar RCV002275721
- Ensembl rs2129569484
- Likely pathogenic
- O'Donnell-Luria-Rodan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.71
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (O'Donnell-Luria-Rodan syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available