D32V (p.Asp32Val) variant of CTNNB1 (Catenin beta-1)
D32V (p.Asp32Val) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely oncogenic in the context of Neoplasm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
D32V (p.Asp32Val) variant details
- p.Asp32Val
- rs121913396
- NCI-TCGA Cosmic COSV6268
- Likely oncogenic
- Neoplasm
- 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: Likely oncogenic (Neoplasm)
- EBI: Pathogenic (in PTR, hepatoblastoma and hepatocellular carcinoma)
- UniProt: Pathogenic (in PTR, hepatoblastoma and hepatocellular carcinoma)
- Structural context available
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)
- Cited in: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for… (PMID 23619274)