M501I (p.Met501Ile) variant of UBE3A (Ubiquitin-protein ligase E3A)
M501I (p.Met501Ile) 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 0.78 / 1. The record also includes published literature.
M501I (p.Met501Ile) variant details
- p.Met501Ile
- rs587782916
- ClinGen CA333428
- ClinVar RCV000144340
- UniProt VAR 073208
- Uncertain significance
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- AlphaMissense 1.00
- MetaLR 0.74
- MetaSVM 0.65
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Uncertain significance (Angelman syndrome)
- EBI: Benign
- UniProt: Benign
- Cited in: Mutation Update for UBE3A variants in Angelman syndrome. (PMID 25212744)
- Cited in: Angelman Syndrome. (PMID 20301323)