F713C (p.Phe713Cys) variant of UBE3A (Ubiquitin-protein ligase E3A)
F713C (p.Phe713Cys) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Angelman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature.
F713C (p.Phe713Cys) variant details
- p.Phe713Cys
- rs587781237
- ClinGen CA333378
- ClinVar RCV000144313
- UniProt VAR 073216
- Pathogenic
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.98
- MetaLR 0.53
- MetaSVM 0.35
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: 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)