R62H (p.Arg62His) variant of UBE3A (Ubiquitin-protein ligase E3A)
R62H (p.Arg62His) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R62H (p.Arg62His) variant details
- p.Arg62His
- rs587784511
- ClinGen CA173802
- NCI-TCGA Cosmic COSV5166
- Uncertain significance
- Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- AlphaMissense 0.25
- MetaLR 0.13
- MetaSVM -1.04
- PolyPhen-2 0.04
- SIFT 0.18
- MutPred 0.15
- ClinVar: Uncertain significance (Angelman syndrome)
- EBI: Benign (in dbSNP:rs587784511)
- UniProt: Benign (in dbSNP:rs587784511)
- Population evidence available
- Structural context available
- Cited in: Mutation analysis of UBE3A in Angelman syndrome patients. (PMID 9585605)
- Cited in: Angelman Syndrome. (PMID 20301323)