S33A (p.Ser33Ala) variant of CTNNB1 (Catenin beta-1)
S33A (p.Ser33Ala) 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 Medulloblastoma WNT activated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
S33A (p.Ser33Ala) variant details
- p.Ser33Ala
- rs1057519886
- NCI-TCGA Cosmic COSV6268
- cosmic curated COSV62689
- Tier I - Strong
- Medulloblastoma WNT activated
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- AlphaMissense 0.91
- MetaLR 0.32
- MetaSVM -0.36
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Tier I - Strong (Medulloblastoma WNT activated)
- EBI: Likely pathogenic (in colorectal cancer and PTR)
- UniProt: Likely pathogenic (in colorectal cancer and PTR)
- Structural context available