D32H (p.Asp32His) variant of CTNNB1 (Catenin beta-1)
D32H (p.Asp32His) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as tier i - strong in the context of Adamantinous craniopharyngioma; Adrenal cortex carcinoma; Medulloblastoma WNT ac. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
D32H (p.Asp32His) variant details
- p.Asp32His
- rs28931588
- NCI-TCGA Cosmic COSV6268
- Tier I - Strong
- Adamantinous craniopharyngioma; Adrenal cortex carcinoma; Medulloblastoma WNT ac
- 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: Tier I - Strong (Adamantinous craniopharyngioma; Adrenal cortex carcinoma; Medull)
- EBI: Pathogenic (in PTR, hepatoblastoma and hepatocellular carcinoma)
- UniProt: Pathogenic (in PTR, hepatoblastoma and hepatocellular carcinoma)
- Structural context available