Q20H (p.Gln20His) variant of CDKN1B (P46527)
Q20H (p.Gln20His) 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 0.54 / 1. The record also includes published literature and structural context.
Q20H (p.Gln20His) variant details
- p.Gln20His
- rs1369715485
- ClinGen CA383968229
- ClinVar RCV002046293
- ClinVar RCV006372591
- Uncertain significance
- Multiple endocrine neoplasia type 4; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- AlphaMissense 0.33
- MetaLR 0.53
- MetaSVM 0.14
- PolyPhen-2 0.98
- SIFT 0.08
- MutPred 0.19
- ClinVar: Uncertain significance (Multiple endocrine neoplasia type 4; Hereditary cancer-predispos)
- 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)