Y495H (p.Tyr495His) variant of UBE3A (Ubiquitin-protein ligase E3A)
Y495H (p.Tyr495His) 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 0.58 / 1.
Y495H (p.Tyr495His) variant details
- p.Tyr495His
- rs2152820213
- ClinGen CA391353512
- ClinVar RCV001840865
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- AlphaMissense 0.99
- MetaLR 0.54
- MetaSVM -0.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance