L260Q (p.Leu260Gln) variant of UBE3A (Ubiquitin-protein ligase E3A)
L260Q (p.Leu260Gln) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in AS. The record also includes published literature.
L260Q (p.Leu260Gln) variant details
- p.Leu260Gln
- UniProt VAR 073201
- Uncertain significance
- in AS
- Missense
- EBI: Variant of uncertain significance (in AS)
- UniProt: Uncertain significance (in AS)
- Cited in: Mutation Update for UBE3A variants in Angelman syndrome. (PMID 25212744)
- Cited in: Mutation analysis of UBE3A in Angelman syndrome patients. (PMID 9585605)