S12T (p.Ser12Thr) variant of CDKN1B (P46527)
S12T (p.Ser12Thr) in CDKN1B (P46527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
S12T (p.Ser12Thr) variant details
- p.Ser12Thr
- rs775772074
- ClinGen CA383968055
- ClinVar RCV001312831
- ClinVar RCV005532931
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 0.59
- MetaLR 0.33
- MetaSVM -0.44
- PolyPhen-2 0.06
- SIFT 0.00
- MutPred 0.33
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Benign
- UniProt: Benign
- 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)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)