S12I (p.Ser12Ile) variant of CDKN1B (P46527)
S12I (p.Ser12Ile) in CDKN1B (P46527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Multiple endocrine neoplasia type 4; Hereditary cancer-predisposing syndrome; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S12I (p.Ser12Ile) variant details
- p.Ser12Ile
- rs775772074
- ClinGen CA233059580
- ClinVar RCV000542106
- ClinVar RCV001020692
- Conflicting interpretations
- Multiple endocrine neoplasia type 4; Hereditary cancer-predisposing syndrome; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.21
- AlphaMissense 0.59
- MetaLR 0.33
- MetaSVM -0.44
- CADD 23.80
- PolyPhen-2 0.06
- ClinVar: Conflicting classifications of pathogenicity (Multiple endocrine neoplasia type 4; Hereditary cancer-predispos)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 6.7e-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)