I54M (p.Ile54Met) variant of SERPINC1 (Antithrombin-III)
I54M (p.Ile54Met) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar 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 0.39 / 1. The record also includes population frequency data and structural context.
I54M (p.Ile54Met) variant details
- p.Ile54Met
- ExAC rs756940594
- TOPMed rs756940594
- gnomAD rs756940594
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.49
- CADD 23.50
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available