I5N (p.Ile5Asn) variant of KMT2E (Histone reader KMT2E)
I5N (p.Ile5Asn) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of O'Donnell-Luria-Rodan syndrome. The record also includes published literature and structural context.
I5N (p.Ile5Asn) variant details
- p.Ile5Asn
- rs748387280
- ClinGen CA368781887
- ClinVar RCV003133949
- Uncertain significance
- O'Donnell-Luria-Rodan syndrome
- Missense
- ClinVar: Uncertain significance (O'Donnell-Luria-Rodan syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: KMT2E-Related Neurodevelopmental Disorder. (PMID 38648332)