L64P (p.Leu64Pro) variant of CDC73 (Parafibromin)
L64P (p.Leu64Pro) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Parathyroid carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
L64P (p.Leu64Pro) variant details
- p.Leu64Pro
- rs121434264
- ClinGen CA252651
- ClinVar RCV000003431
- ClinVar RCV001851616
- Likely pathogenic
- Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Likely pathogenic (Parathyroid carcinoma)
- EBI: Pathogenic (in HRPT1)
- UniProt: Pathogenic (in HRPT1)
- Structural context available
- Cited in: HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. (PMID 12434154)
- Cited in: HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. (PMID 12960210)