A201T (p.Ala201Thr) variant of UBE3A (Ubiquitin-protein ligase E3A)
A201T (p.Ala201Thr) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and published literature.
A201T (p.Ala201Thr) variant details
- p.Ala201Thr
- rs147145506
- ClinGen CA213368
- cosmic curated COSV10722
- ClinVar RCV000082351
- Benign/Likely benign
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- AlphaMissense 0.09
- MetaLR 0.02
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.62
- MutPred 0.22
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not specified; not provided)
- EBI: Benign (in dbSNP:rs147145506)
- UniProt: Benign (in dbSNP:rs147145506)
- Population evidence available
- Cited in: De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. (PMID 8988172)
- Cited in: Mutation analysis of UBE3A in Angelman syndrome patients. (PMID 9585605)