E22Q (p.Glu22Gln) variant of CDKN1B (P46527)
E22Q (p.Glu22Gln) in CDKN1B (P46527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Multiple endocrine neoplasia type 4; Hereditary cancer-predisposin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
E22Q (p.Glu22Gln) variant details
- p.Glu22Gln
- rs2136355461
- ClinGen CA383968258
- ClinVar RCV001958210
- ClinVar RCV002361284
- Uncertain significance
- not provided; Multiple endocrine neoplasia type 4; Hereditary cancer-predisposin
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- AlphaMissense 0.36
- MetaLR 0.47
- MetaSVM -0.22
- PolyPhen-2 0.84
- SIFT 0.14
- EVE 0.31
- ClinVar: Uncertain significance (not provided; Multiple endocrine neoplasia type 4; Hereditary ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)