T41A (p.Thr41Ala) variant of CTNNB1 (Catenin beta-1)
T41A (p.Thr41Ala) 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 Hepatocellular carcinoma; Pilomatrixoma; Medulloblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
T41A (p.Thr41Ala) variant details
- p.Thr41Ala
- rs121913412
- Civic 1285
- ClinGen CA127269
- NCI-TCGA Cosmic COSV6268
- Likely pathogenic
- Hepatocellular carcinoma; Pilomatrixoma; Medulloblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- AlphaMissense 0.96
- MetaLR 0.25
- MetaSVM -0.54
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (Hepatocellular carcinoma; Pilomatrixoma; Medulloblastoma)
- EBI: Pathogenic (in hepatoblastoma and hepatocellular carcinoma)
- UniProt: Pathogenic (in hepatoblastoma and hepatocellular carcinoma)
- Structural context available
- Cited in: Mutational analysis of beta-catenin gene in Japanese ovarian carcinomas: frequent mutations in endometrioid carcinomas. (PMID 10391090)
- Cited in: Beta-catenin accumulation and mutation of the CTNNB1 gene in hepatoblastoma. (PMID 10398436)