V6M (p.Val6Met) variant of CDKN1B (P46527)
V6M (p.Val6Met) in CDKN1B (P46527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
V6M (p.Val6Met) variant details
- p.Val6Met
- rs2136355356
- ClinGen CA383967922
- cosmic curated COSV10506
- ClinVar RCV002024999
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- AlphaMissense 0.47
- MetaLR 0.49
- MetaSVM 0.00
- PolyPhen-2 0.95
- SIFT 0.03
- MutPred 0.28
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- 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)