S12N (p.Ser12Asn) variant of CDKN1B (P46527)
S12N (p.Ser12Asn) 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; not provided; Multiple endocrine neopla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S12N (p.Ser12Asn) variant details
- p.Ser12Asn
- rs775772074
- ClinGen CA6457366
- cosmic curated COSV99963
- ClinVar RCV000814993
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.25
- AlphaMissense 0.59
- MetaLR 0.33
- MetaSVM -0.44
- CADD 23.40
- PolyPhen-2 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Multiple)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)