D32Y (p.Asp32Tyr) variant of CTNNB1 (Catenin beta-1)
D32Y (p.Asp32Tyr) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of Pilomatrixoma; Hepatoblastoma; Medulloblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
D32Y (p.Asp32Tyr) variant details
- p.Asp32Tyr
- rs28931588
- ClinGen CA127271
- NCI-TCGA Cosmic COSV6268
- Pathogenic; other
- Pilomatrixoma; Hepatoblastoma; Medulloblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- AlphaMissense 1.00
- MetaLR 0.34
- MetaSVM -0.38
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic; other (Pilomatrixoma; Hepatoblastoma; Medulloblastoma)
- EBI: Pathogenic (in PTR, hepatoblastoma and hepatocellular carcinoma)
- UniProt: Pathogenic (in PTR, hepatoblastoma and hepatocellular carcinoma)
- Structural context available
- Cited in: A common human skin tumour is caused by activating mutations in beta-catenin. (PMID 10192393)
- Cited in: Childhood hepatoblastomas frequently carry a mutated degradation targeting box of the beta-catenin gene. (PMID 9927029)