S358T (p.Ser358Thr) variant of UBE3A (Ubiquitin-protein ligase E3A)
S358T (p.Ser358Thr) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Angelman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and published literature.
S358T (p.Ser358Thr) variant details
- p.Ser358Thr
- rs141984760
- ClinGen CA333425
- ClinVar RCV000144337
- ClinVar RCV000488159
- Benign
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- AlphaMissense 0.10
- MetaLR 0.03
- MetaSVM -1.05
- PolyPhen-2 0.02
- SIFT 0.75
- EVE 0.15
- ClinVar: Benign (Angelman syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Cited in: Mutation Update for UBE3A variants in Angelman syndrome. (PMID 25212744)
- Cited in: Angelman Syndrome. (PMID 20301323)