S45F (p.Ser45Phe) variant of CTNNB1 (Catenin beta-1)
S45F (p.Ser45Phe) 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 Gallbladder cancer; Nephroblastoma; Hepatocellular carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
S45F (p.Ser45Phe) variant details
- p.Ser45Phe
- rs121913409
- Civic 1286
- ClinGen CA127283
- NCI-TCGA Cosmic COSV6268
- Pathogenic; other
- Gallbladder cancer; Nephroblastoma; Hepatocellular carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- AlphaMissense 0.99
- MetaLR 0.30
- MetaSVM -0.53
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic; other (Gallbladder cancer; Nephroblastoma; 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: Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors. (PMID 18832571)