K37N (p.Lys37Asn) variant of CDC73 (Parafibromin)
K37N (p.Lys37Asn) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Parathyroid carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
K37N (p.Lys37Asn) variant details
- p.Lys37Asn
- rs1355286253
- ClinGen CA343972972
- ClinVar RCV000803442
- TOPMed rs1355286253
- Uncertain significance
- Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.40
- MetaLR 0.42
- MetaSVM -0.16
- CADD 24.10
- PolyPhen-2 0.10
- SIFT 0.09
- ClinVar: Uncertain significance (Parathyroid carcinoma)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)