M1I (p.Met1Ile) variant of CDC73 (Parafibromin)
M1I (p.Met1Ile) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs28942098
- ClinGen CA343972728
- ClinVar RCV000579066
- ClinGen CA252641
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- MetaLR 0.82
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.88
- MutPred 0.98
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. (PMID 12434154)
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)