G9W (p.Gly9Trp) variant of CDKN1B (P46527)
G9W (p.Gly9Trp) 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 0.69 / 1. The record also includes published literature and structural context.
G9W (p.Gly9Trp) variant details
- p.Gly9Trp
- rs755225286
- ClinGen CA383967987
- NCI-TCGA Cosmic COSV5743
- cosmic curated COSV57430
- Uncertain significance
- Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- AlphaMissense 0.92
- MetaLR 0.75
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.19
- ClinVar: Uncertain significance (Multiple endocrine neoplasia type 4)
- EBI: Likely benign
- UniProt: Likely benign
- 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)