L1159P (p.Leu1159Pro) variant of KMT2E (Histone reader KMT2E)
L1159P (p.Leu1159Pro) 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 record also includes published literature and structural context.
L1159P (p.Leu1159Pro) variant details
- p.Leu1159Pro
- rs2536513831
- ClinGen CA368789940
- ClinVar RCV003127420
- Likely pathogenic
- O'Donnell-Luria-Rodan syndrome
- Missense
- ClinVar: Likely pathogenic (O'Donnell-Luria-Rodan syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: KMT2E-Related Neurodevelopmental Disorder. (PMID 38648332)