S33F (p.Ser33Phe) variant of CTNNB1 (Catenin beta-1)
S33F (p.Ser33Phe) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of Malignant tumor of urinary bladder; Pilomatrixoma; 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.
S33F (p.Ser33Phe) variant details
- p.Ser33Phe
- rs121913400
- ClinGen CA127275
- NCI-TCGA Cosmic COSV6268
- Pathogenic; other
- Malignant tumor of urinary bladder; Pilomatrixoma; 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: Pathogenic; other (Malignant tumor of urinary bladder; Pilomatrixoma; Medulloblasto)
- EBI: Pathogenic (in PTR, MDB and hepatocellular carcinoma)
- UniProt: Pathogenic (in PTR, MDB and hepatocellular carcinoma)
- Structural context available
- Cited in: A common human skin tumour is caused by activating mutations in beta-catenin. (PMID 10192393)
- Cited in: APC mutations in sporadic medulloblastomas. (PMID 10666372)