R19G (p.Arg19Gly) variant of CDKN1B (P46527)
R19G (p.Arg19Gly) 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 0.62 / 1. The record also includes published literature and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- rs1555085496
- ClinGen CA383968202
- ClinVar RCV000570078
- ClinVar RCV003619693
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- AlphaMissense 0.72
- MetaLR 0.65
- MetaSVM 0.24
- PolyPhen-2 0.91
- SIFT 0.00
- MutPred 0.37
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Likely benign
- UniProt: Likely benign
- 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)