R62C (p.Arg62Cys) variant of UBE3A (Ubiquitin-protein ligase E3A)
R62C (p.Arg62Cys) 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; Angelman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R62C (p.Arg62Cys) variant details
- p.Arg62Cys
- rs587783098
- ClinGen CA294634
- cosmic curated COSV10457
- ClinVar RCV000144764
- Uncertain significance
- not provided; Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.46
- MetaLR 0.16
- MetaSVM -0.85
- PolyPhen-2 1.00
- SIFT 0.05
- MutPred 0.35
- ClinVar: Uncertain significance (not provided; Angelman syndrome)
- EBI: Variant of uncertain significance (in dbSNP:rs587784511)
- UniProt: Uncertain significance (in dbSNP:rs587784511)
- Population evidence available
- Structural context 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)