D396N (p.Asp396Asn) variant of UBE3A (Ubiquitin-protein ligase E3A)
D396N (p.Asp396Asn) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1.
D396N (p.Asp396Asn) variant details
- p.Asp396Asn
- rs1194662343
- NCI-TCGA Cosmic COSV5167
- TOPMed rs1194662343
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- AlphaMissense 0.10
- MetaLR 0.31
- MetaSVM -0.67
- PolyPhen-2 0.12
- SIFT 0.17
- MutPred 0.32
- UniProt: Variant assessed as somatic; moderate impact.