T129K (p.Thr129Lys) variant of UBE3A (Ubiquitin-protein ligase E3A)
T129K (p.Thr129Lys) 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 0.39 / 1. The record also includes published literature.
T129K (p.Thr129Lys) variant details
- p.Thr129Lys
- rs587781241
- ClinGen CA333390
- NCI-TCGA Cosmic COSV9921
- cosmic curated COSV99217
- Pathogenic
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- AlphaMissense 0.90
- MetaLR 0.07
- MetaSVM -1.15
- PolyPhen-2 0.73
- SIFT 0.05
- EVE 0.69
- 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)