G34R (p.Gly34Arg) variant of CTNNB1 (Catenin beta-1)
G34R (p.Gly34Arg) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as tier i - strong in the context of Adrenal cortex carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
G34R (p.Gly34Arg) variant details
- p.Gly34Arg
- rs121913399
- NCI-TCGA Cosmic COSV6268
- cosmic curated COSV62687
- Tier I - Strong
- Adrenal cortex carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- AlphaMissense 1.00
- MetaLR 0.34
- MetaSVM -0.37
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Tier I - Strong (Adrenal cortex 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)