D235V (p.Asp235Val) variant of UBE3A (Ubiquitin-protein ligase E3A)
D235V (p.Asp235Val) 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 0.47 / 1. The record also includes published literature.
D235V (p.Asp235Val) variant details
- p.Asp235Val
- rs587780581
- ClinGen CA333481
- ClinVar RCV000144555
- UniProt VAR 073199
- Pathogenic
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- AlphaMissense 0.98
- MetaLR 0.18
- MetaSVM -0.67
- PolyPhen-2 0.54
- SIFT 0.00
- EVE 0.89
- 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)