D365E (p.Asp365Glu) variant of UBE3A (Ubiquitin-protein ligase E3A)
D365E (p.Asp365Glu) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
D365E (p.Asp365Glu) variant details
- p.Asp365Glu
- rs375600705
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51661
- ESP rs375600705
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 0.77
- MetaLR 0.31
- MetaSVM -0.69
- PolyPhen-2 0.94
- SIFT 0.30
- EVE 0.23
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available