S55P (p.Ser55Pro) variant of CTNNA1 (Catenin alpha-1)
S55P (p.Ser55Pro) in CTNNA1 (Catenin alpha-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Colorectal cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
S55P (p.Ser55Pro) variant details
- p.Ser55Pro
- rs1755329623
- ClinGen CA361477381
- ClinVar RCV002274836
- TOPMed rs1755329623
- Uncertain significance
- Colorectal cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- AlphaMissense 0.89
- MetaLR 0.18
- MetaSVM -0.88
- PolyPhen-2 0.76
- SIFT 0.01
- EVE 0.68
- ClinVar: Uncertain significance (Colorectal cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)