S37C (p.Ser37Cys) variant of CTNNB1 (Catenin beta-1)
S37C (p.Ser37Cys) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Ovarian neoplasm; Pilomatrixoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
S37C (p.Ser37Cys) variant details
- p.Ser37Cys
- rs121913403
- ClinGen CA127267
- NCI-TCGA Cosmic COSV6268
- Pathogenic/Likely pathogenic
- not provided; Ovarian neoplasm; Pilomatrixoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- AlphaMissense 1.00
- MetaLR 0.35
- MetaSVM -0.34
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic/Likely pathogenic (not provided; Ovarian neoplasm; Pilomatrixoma)
- EBI: Pathogenic (in PTR, hepatoblastoma and ovarian cancer)
- UniProt: Pathogenic (in PTR, hepatoblastoma and ovarian cancer)
- Structural context available
- Cited in: A common human skin tumour is caused by activating mutations in beta-catenin. (PMID 10192393)
- Cited in: Mutational analysis of beta-catenin gene in Japanese ovarian carcinomas: frequent mutations in endometrioid carcinomas. (PMID 10391090)