V290G (p.Val290Gly) variant of UBE3A (Ubiquitin-protein ligase E3A)
V290G (p.Val290Gly) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature.
V290G (p.Val290Gly) variant details
- p.Val290Gly
- rs1059383
- UniProt VAR 047516
- Ensembl rs1059383
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- AlphaMissense 0.94
- MetaLR 0.12
- MetaSVM -1.02
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.63
- Cited in: Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6… (PMID 8380895)
- Cited in: The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing. (PMID 9143503)