H36P (p.His36Pro) variant of CTNNB1 (Catenin beta-1)
H36P (p.His36Pro) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Desmoid disease, hereditary. The record also includes structural context.
H36P (p.His36Pro) variant details
- p.His36Pro
- NCI-TCGA Cosmic COSV6268
- cosmic curated COSV62688
- NCI-TCGA Cosmic COSV6269
- Ensembl rs2125617352
- Likely pathogenic
- Desmoid disease, hereditary
- Missense
- ClinVar: Likely pathogenic (Desmoid disease, hereditary)
- UniProt: Likely pathogenic
- Structural context available