S29C (p.Ser29Cys) variant of CTNNB1 (Catenin beta-1)
S29C (p.Ser29Cys) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes structural context.
S29C (p.Ser29Cys) variant details
- p.Ser29Cys
- rs2078130210
- ClinGen CA352228488
- ClinVar RCV003433528
- TOPMed rs2078130210
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- AlphaMissense 1.00
- MetaLR 0.11
- MetaSVM -1.01
- PolyPhen-2 0.01
- SIFT 0.00
- EVE 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available