P11A (p.Pro11Ala) variant of CDKN1B (P46527)
P11A (p.Pro11Ala) in CDKN1B (P46527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia type 4; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
P11A (p.Pro11Ala) variant details
- p.Pro11Ala
- rs779193240
- ClinGen CA383968035
- ClinVar RCV000798195
- ClinVar RCV005532760
- Uncertain significance
- Multiple endocrine neoplasia type 4; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- AlphaMissense 0.77
- MetaLR 0.73
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.09
- MutPred 0.31
- ClinVar: Uncertain significance (Multiple endocrine neoplasia type 4; Hereditary cancer-predispos)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)