K16E (p.Lys16Glu) variant of CDC73 (Parafibromin)
K16E (p.Lys16Glu) 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 0.53 / 1. The record also includes published literature and structural context.
K16E (p.Lys16Glu) variant details
- p.Lys16Glu
- rs1675464429
- ClinGen CA343972821
- ClinVar RCV001307681
- Ensembl rs1675464429
- Uncertain significance
- Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- AlphaMissense 0.90
- MetaLR 0.50
- MetaSVM -0.06
- PolyPhen-2 0.39
- SIFT 0.00
- EVE 0.58
- ClinVar: Uncertain significance (Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)