S45P (p.Ser45Pro) variant of CTNNB1 (Catenin beta-1)
S45P (p.Ser45Pro) 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; Hepatocellular carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
S45P (p.Ser45Pro) variant details
- p.Ser45Pro
- rs121913407
- ClinGen CA127285
- NCI-TCGA Cosmic COSV6268
- cosmic curated COSV62687
- Pathogenic/Likely pathogenic
- not provided; Hepatocellular carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- AlphaMissense 0.99
- MetaLR 0.27
- MetaSVM -0.52
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hepatocellular carcinoma)
- EBI: Pathogenic (in hepatocellular carcinoma)
- UniProt: Pathogenic (in hepatocellular carcinoma)
- Structural context available
- Cited in: Beta-catenin mutations in hepatocellular carcinoma correlate with a low rate of loss of heterozygosity. (PMID 10435629)
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)