R15W (p.Arg15Trp) variant of CDKN1B (P46527)
R15W (p.Arg15Trp) in CDKN1B (P46527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Multiple endocrine neoplasia type 4; Hereditary cancer-predisposin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R15W (p.Arg15Trp) variant details
- p.Arg15Trp
- rs2066828
- ClinGen CA6457369
- ClinVar RCV000540605
- ClinVar RCV001022424
- Uncertain significance
- not provided; Multiple endocrine neoplasia type 4; Hereditary cancer-predisposin
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.60
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Multiple endocrine neoplasia type 4; Hereditary ca)
- EBI: Variant of uncertain significance (in dbSNP:rs2066828)
- UniProt: Uncertain significance (in dbSNP:rs2066828)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)