G34E (p.Gly34Glu) variant of CTNNB1 (Catenin beta-1)
G34E (p.Gly34Glu) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of Pilomatrixoma; Medulloblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G34E (p.Gly34Glu) variant details
- p.Gly34Glu
- rs28931589
- ClinGen CA127277
- NCI-TCGA Cosmic COSV6268
- Pathogenic; other
- Pilomatrixoma; Medulloblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- AlphaMissense 1.00
- MetaLR 0.34
- MetaSVM -0.37
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic; other (Pilomatrixoma; Medulloblastoma)
- EBI: Pathogenic (in PTR)
- UniProt: Pathogenic (in PTR)
- Population evidence available
- 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)