S37F (p.Ser37Phe) variant of CTNNB1 (Catenin beta-1)
S37F (p.Ser37Phe) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 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.
S37F (p.Ser37Phe) variant details
- p.Ser37Phe
- rs121913403
- ClinGen CA127279
- NCI-TCGA Cosmic COSV6268
- cosmic curated COSV62687
- Pathogenic
- 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 (Pilomatrixoma)
- EBI: Pathogenic (in PTR)
- UniProt: Pathogenic (in PTR)
- Structural context available
- Cited in: A common human skin tumour is caused by activating mutations in beta-catenin. (PMID 10192393)
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)