M58I (p.Met58Ile) variant of F10 (Coagulation factor X)
M58I (p.Met58Ile) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
M58I (p.Met58Ile) variant details
- p.Met58Ile
- rs1414570095
- ClinGen CA388787619
- ClinVar RCV002742126
- gnomAD rs1414570095
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.33
- CADD 7.94
- PolyPhen-2 0.01
- SIFT 0.56
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)