R5G (p.Arg5Gly) variant of CDKN1B (P46527)
R5G (p.Arg5Gly) 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 0.66 / 1. The record also includes published literature and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- rs1349668409
- ClinGen CA383967910
- ClinVar RCV001358989
- ClinVar RCV003339614
- Uncertain significance
- Multiple endocrine neoplasia type 4; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- AlphaMissense 0.75
- MetaLR 0.71
- MetaSVM 0.32
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.35
- ClinVar: Uncertain significance (Multiple endocrine neoplasia type 4; Hereditary cancer-predispos)
- EBI: Pathogenic
- UniProt: 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)