E74K (p.Glu74Lys) variant of UBE3A (Ubiquitin-protein ligase E3A)
E74K (p.Glu74Lys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
E74K (p.Glu74Lys) variant details
- p.Glu74Lys
- rs1207660411
- ClinGen CA391356386
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51660
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- AlphaMissense 0.95
- MetaLR 0.19
- MetaSVM -0.92
- PolyPhen-2 1.00
- SIFT 0.22
- MutPred 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available