S298G (p.Ser298Gly) variant of UBE3A (Ubiquitin-protein ligase E3A)
S298G (p.Ser298Gly) 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 0.38 / 1. The record also includes published literature.
S298G (p.Ser298Gly) variant details
- p.Ser298Gly
- rs1595810000
- ClinGen CA391354857
- NCI-TCGA Cosmic COSV9921
- cosmic curated COSV99217
- Uncertain significance
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- AlphaMissense 0.78
- MetaLR 0.13
- MetaSVM -1.00
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.42
- ClinVar: Uncertain significance (Angelman syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Angelman Syndrome. (PMID 20301323)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)