S23R (p.Ser23Arg) variant of CTNNB1 (Catenin beta-1)
S23R (p.Ser23Arg) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in hepatocellular carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S23R (p.Ser23Arg) variant details
- p.Ser23Arg
- rs1413975856
- cosmic curated COSV62697
- UniProt VAR 017612
- TOPMed rs1413975856
- Uncertain significance
- in hepatocellular carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.19
- AlphaMissense 0.62
- MetaLR 0.09
- MetaSVM -1.07
- CADD 22.20
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance (in hepatocellular carcinoma)
- UniProt: Uncertain significance (in hepatocellular carcinoma)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Beta-catenin mutations in hepatocellular carcinoma correlate with a low rate of loss of heterozygosity. (PMID 10435629)
- Cited in: Identification of two novel regulated serines in the N terminus of beta-catenin. (PMID 12027456)