P481L (p.Pro481Leu) variant of UBE3A (Ubiquitin-protein ligase E3A)
P481L (p.Pro481Leu) 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 0.68 / 1. The record also includes published literature and structural context.
P481L (p.Pro481Leu) variant details
- p.Pro481Leu
- rs587780584
- ClinGen CA333490
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51664
- Pathogenic
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- AlphaMissense 0.98
- MetaLR 0.62
- MetaSVM 0.29
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Angelman syndrome)
- EBI: Pathogenic (in AS)
- UniProt: Pathogenic (in AS)
- Structural context available
- Cited in: Mutation Update for UBE3A variants in Angelman syndrome. (PMID 25212744)
- Cited in: Mutation analysis of UBE3A in Angelman syndrome patients. (PMID 9585605)