M589K (p.Met589Lys) variant of UBE3A (Ubiquitin-protein ligase E3A)
M589K (p.Met589Lys) 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 0.66 / 1. The record also includes published literature.
M589K (p.Met589Lys) variant details
- p.Met589Lys
- rs587781244
- ClinGen CA213383
- ClinVar RCV000201268
- UniProt VAR 073210
- Likely pathogenic
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- AlphaMissense 1.00
- MetaLR 0.51
- MetaSVM 0.26
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Likely pathogenic (Angelman syndrome)
- EBI: Likely pathogenic (in AS)
- UniProt: Likely 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)