S33C (p.Ser33Cys) variant of CTNNB1 (Catenin beta-1)
S33C (p.Ser33Cys) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of Medulloblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
S33C (p.Ser33Cys) variant details
- p.Ser33Cys
- rs121913400
- ClinGen CA16602684
- NCI-TCGA Cosmic COSV6268
- cosmic curated COSV62687
- other
- Medulloblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 1.00
- MetaLR 0.34
- MetaSVM -0.37
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: other (Medulloblastoma)
- EBI: Pathogenic (in colorectal cancer and PTR)
- UniProt: Pathogenic (in colorectal cancer and PTR)
- Structural context available
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)
- Cited in: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for… (PMID 23619274)