N12H (p.Asn12His) variant of CDC73 (Parafibromin)
N12H (p.Asn12His) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Parathyroid carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
N12H (p.Asn12His) variant details
- p.Asn12His
- rs1675464114
- ClinGen CA343972791
- ClinVar RCV003608447
- ClinVar RCV004371918
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- AlphaMissense 0.33
- MetaLR 0.51
- MetaSVM -0.19
- PolyPhen-2 0.01
- SIFT 0.10
- EVE 0.24
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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: CDC73-Related Disorders. (PMID 20301744)