D37N (p.Asp37Asn) variant of CDKN1B (P46527)
D37N (p.Asp37Asn) 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 0.43 / 1. The record also includes published literature and structural context.
D37N (p.Asp37Asn) variant details
- p.Asp37Asn
- rs1946488666
- ClinGen CA383968660
- cosmic curated COSV57431
- ClinVar RCV001312928
- Uncertain significance
- Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- AlphaMissense 0.07
- MetaLR 0.57
- MetaSVM -0.33
- PolyPhen-2 0.01
- SIFT 0.40
- EVE 0.21
- 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)