L63P (p.Leu63Pro) variant of CDC73 (Parafibromin)
L63P (p.Leu63Pro) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Parathyroid carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
L63P (p.Leu63Pro) variant details
- p.Leu63Pro
- rs1060500015
- ClinGen CA16609951
- ClinVar RCV000472304
- UniProt VAR 064931
- Pathogenic
- Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Parathyroid carcinoma)
- EBI: Pathogenic (in HRPT1)
- UniProt: Pathogenic (in HRPT1)
- Structural context available
- Cited in: Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. (PMID 18755853)
- Cited in: HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. (PMID 12434154)