V290I (p.Val290Ile) variant of UBE3A (Ubiquitin-protein ligase E3A)
V290I (p.Val290Ile) 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 Angelman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and published literature.
V290I (p.Val290Ile) variant details
- p.Val290Ile
- rs1064794579
- ClinGen CA16619910
- ClinVar RCV000486907
- ClinVar RCV000695593
- Uncertain significance
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- AlphaMissense 0.12
- MetaLR 0.03
- MetaSVM -1.08
- PolyPhen-2 0.45
- SIFT 0.53
- EVE 0.09
- ClinVar: Uncertain significance (Angelman syndrome)
- EBI: Variant of uncertain significance (in dbSNP:rs1059383)
- UniProt: Uncertain significance (in dbSNP:rs1059383)
- Population evidence available
- Cited in: Angelman Syndrome. (PMID 20301323)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)