D32G (p.Asp32Gly) variant of CTNNB1 (Catenin beta-1)
D32G (p.Asp32Gly) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Pilomatrixoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
D32G (p.Asp32Gly) variant details
- p.Asp32Gly
- rs121913396
- ClinGen CA127265
- NCI-TCGA Cosmic COSV6268
- cosmic curated COSV62688
- Pathogenic/Likely pathogenic
- not provided; Pilomatrixoma
- 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: Pathogenic/Likely pathogenic (not provided; Pilomatrixoma)
- EBI: Pathogenic (in PTR and hepatocellular carcinoma)
- UniProt: Pathogenic (in PTR 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: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)