D44H (p.Asp44His) variant of CDKN1B (P46527)
D44H (p.Asp44His) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
D44H (p.Asp44His) variant details
- p.Asp44His
- rs2136355606
- ClinGen CA383968845
- ClinVar RCV002002132
- ClinVar RCV004946909
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.73
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)