C140R (p.Cys140Arg) variant of UBE3A (Ubiquitin-protein ligase E3A)
C140R (p.Cys140Arg) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Angelman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature.
C140R (p.Cys140Arg) variant details
- p.Cys140Arg
- rs587782907
- ClinGen CA333406
- ClinVar RCV000144323
- ClinVar RCV000483509
- Uncertain significance
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- AlphaMissense 1.00
- MetaLR 0.15
- MetaSVM -0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Uncertain significance (Angelman syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Mutation Update for UBE3A variants in Angelman syndrome. (PMID 25212744)
- Cited in: Angelman Syndrome. (PMID 20301323)