P11S (p.Pro11Ser) variant of CDKN1B (P46527)
P11S (p.Pro11Ser) in CDKN1B (P46527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Ovarian cancer; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- rs779193240
- ClinGen CA6457364
- cosmic curated COSV57429
- ClinVar RCV000466839
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Ovarian cancer; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.57
- AlphaMissense 0.77
- MetaLR 0.73
- MetaSVM 0.52
- CADD 26.70
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Ovarian cancer; not pro)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00018)
- 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)