H23Q (p.His23Gln) variant of CDKN1B (P46527)
H23Q (p.His23Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
H23Q (p.His23Gln) variant details
- p.His23Gln
- rs1946487615
- ClinGen CA383968306
- ClinVar RCV001218225
- Ensembl rs1946487615
- Uncertain significance
- Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.22
- MetaLR 0.33
- MetaSVM -0.64
- PolyPhen-2 0.00
- SIFT 0.15
- EVE 0.20
- ClinVar: Uncertain significance (Multiple endocrine neoplasia type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)