D32A (p.Asp32Ala) variant of CTNNB1 (Catenin beta-1)
D32A (p.Asp32Ala) 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 Embryonal rhabdomyosarcoma; Medulloblastoma WNT activated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
D32A (p.Asp32Ala) variant details
- p.Asp32Ala
- rs121913396
- NCI-TCGA Cosmic COSV6268
- cosmic curated COSV62688
- Tier I - Strong
- Embryonal rhabdomyosarcoma; Medulloblastoma WNT activated
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 1.00
- MetaLR 0.32
- MetaSVM -0.38
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Tier I - Strong (Embryonal rhabdomyosarcoma; Medulloblastoma WNT activated)
- EBI: Pathogenic (in hepatocellular carcinoma)
- UniProt: Pathogenic (in hepatocellular carcinoma)
- Structural context available
- Cited in: Beta-catenin mutations in hepatocellular carcinoma correlate with a low rate of loss of heterozygosity. (PMID 10435629)