S33P (p.Ser33Pro) variant of CTNNB1 (Catenin beta-1)
S33P (p.Ser33Pro) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in colorectal cancer and PTR. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
S33P (p.Ser33Pro) variant details
- p.Ser33Pro
- rs1057519886
- NCI-TCGA Cosmic COSV6268
- cosmic curated COSV62688
- Likely pathogenic
- in colorectal cancer and PTR
- 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
- EBI: Likely pathogenic (in colorectal cancer and PTR)
- UniProt: Likely pathogenic (in colorectal cancer and PTR)
- Structural context available