I54L (p.Ile54Leu) variant of SERPINC1 (Antithrombin-III)
I54L (p.Ile54Leu) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I54L (p.Ile54Leu) variant details
- p.Ile54Leu
- ExAC rs780670128
- TOPMed rs780670128
- gnomAD rs780670128
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.41
- CADD 23.40
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available