S31C (p.Ser31Cys) variant of APC (Adenomatous polyposis coli protein)
S31C (p.Ser31Cys) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
S31C (p.Ser31Cys) variant details
- p.Ser31Cys
- rs1270741856
- ClinGen CA16021543
- ClinVar RCV001019131
- ClinVar RCV002469324
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- ESM-1b 0.11
- AlphaMissense 0.97
- MetaLR 0.15
- MetaSVM -0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)