T42S (p.Thr42Ser) variant of CDKN1B (P46527)
T42S (p.Thr42Ser) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
T42S (p.Thr42Ser) variant details
- p.Thr42Ser
- rs200422211
- ClinGen CA383968793
- ClinVar RCV001339029
- ClinVar RCV002431945
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- AlphaMissense 0.34
- MetaLR 0.42
- MetaSVM -0.35
- PolyPhen-2 0.82
- SIFT 0.13
- EVE 0.26
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)