M1I (p.Met1Ile) variant of CDKN1B (P46527)
M1I (p.Met1Ile) in CDKN1B (P46527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs756190836
- ClinGen CA6457360
- ClinVar RCV000551866
- ClinVar RCV002377114
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- MetaLR 0.81
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Multiple)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)