D17E (p.Asp17Glu) variant of CDKN1B (P46527)
D17E (p.Asp17Glu) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
D17E (p.Asp17Glu) variant details
- p.Asp17Glu
- rs552533838
- ClinGen CA383968173
- cosmic curated COSV57429
- ClinVar RCV000994851
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.20
- CADD 19.10
- PolyPhen-2 0.03
- SIFT 0.48
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Multiple)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-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)