M1T (p.Met1Thr) variant of CDC73 (Parafibromin)
M1T (p.Met1Thr) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1553277483
- ClinGen CA343972725
- ClinVar RCV000623617
- Pathogenic
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- MetaLR 0.84
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- MutPred 0.96
- ClinVar: Pathogenic (Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)