V267M (p.Val267Met) variant of UBE3A (Ubiquitin-protein ligase E3A)
V267M (p.Val267Met) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Angelman syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and published literature.
V267M (p.Val267Met) variant details
- p.Val267Met
- rs745363984
- ClinGen CA7435588
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51668
- Conflicting interpretations
- not provided; Angelman syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- AlphaMissense 0.65
- MetaLR 0.03
- MetaSVM -1.09
- PolyPhen-2 0.44
- SIFT 0.16
- EVE 0.24
- ClinVar: Conflicting classifications of pathogenicity (not provided; Angelman syndrome; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- 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)