M1V (p.Met1Val) variant of CDC73 (Parafibromin)
M1V (p.Met1Val) 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 0.88 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1558276054
- ClinGen CA343972722
- ClinVar RCV000706820
- Pathogenic
- Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- MetaLR 0.84
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- MutPred 0.97
- ClinVar: Pathogenic (Parathyroid carcinoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)