T41I (p.Thr41Ile) variant of CTNNB1 (Catenin beta-1)
T41I (p.Thr41Ile) 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 Desmoid disease, hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
T41I (p.Thr41Ile) variant details
- p.Thr41Ile
- rs121913413
- ClinGen CA127281
- NCI-TCGA Cosmic COSV6268
- cosmic curated COSV62688
- Likely pathogenic
- Desmoid disease, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- AlphaMissense 0.94
- MetaLR 0.19
- MetaSVM -0.88
- PolyPhen-2 0.49
- SIFT 0.00
- EVE 0.17
- ClinVar: Likely pathogenic (Desmoid disease, hereditary)
- EBI: Pathogenic (in PTR, hepatocellular carcinoma and ovarian cancer)
- UniProt: Pathogenic (in PTR, hepatocellular carcinoma and ovarian cancer)
- Structural context available
- Cited in: A common human skin tumour is caused by activating mutations in beta-catenin. (PMID 10192393)
- Cited in: APC-Associated Polyposis Conditions. (PMID 20301519)