S10N (p.Ser10Asn) variant of CDKN1B (P46527)
S10N (p.Ser10Asn) 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 0.64 / 1. The record also includes published literature and structural context.
S10N (p.Ser10Asn) variant details
- p.Ser10Asn
- rs1555085482
- ClinGen CA383968018
- ClinVar RCV000528696
- ClinVar RCV001017897
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- AlphaMissense 0.91
- MetaLR 0.71
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.13
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- 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)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)