M16V (p.Met16Val) variant of CDKN1B (P46527)
M16V (p.Met16Val) 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; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
M16V (p.Met16Val) variant details
- p.Met16Val
- rs1162081170
- ClinGen CA383968129
- ClinVar RCV001321786
- ClinVar RCV004609763
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia type 4; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.26
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)