G34V (p.Gly34Val) variant of CTNNB1 (Catenin beta-1)
G34V (p.Gly34Val) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Colorectal cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
G34V (p.Gly34Val) variant details
- p.Gly34Val
- rs28931589
- ClinGen CA127273
- NCI-TCGA Cosmic COSV6268
- cosmic curated COSV62687
- Likely pathogenic
- Colorectal cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- AlphaMissense 1.00
- MetaLR 0.34
- MetaSVM -0.37
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (Colorectal cancer)
- EBI: Pathogenic (in hepatoblastoma)
- UniProt: Pathogenic (in hepatoblastoma)
- Structural context available
- Cited in: Childhood hepatoblastomas frequently carry a mutated degradation targeting box of the beta-catenin gene. (PMID 9927029)
- Cited in: Lynch Syndrome. (PMID 20301390)