L260H (p.Leu260His) variant of UBE3A (Ubiquitin-protein ligase E3A)
L260H (p.Leu260His) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Angelman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature.
L260H (p.Leu260His) variant details
- p.Leu260His
- rs587780582
- ClinGen CA333393
- ClinVar RCV000144318
- UniProt VAR 073200
- Likely pathogenic
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- AlphaMissense 1.00
- MetaLR 0.19
- MetaSVM -0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Likely pathogenic (Angelman syndrome)
- EBI: Pathogenic (in AS)
- UniProt: Pathogenic (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)