I6K (p.Ile6Lys) variant of SERPINC1 (Antithrombin-III)
I6K (p.Ile6Lys) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
I6K (p.Ile6Lys) variant details
- p.Ile6Lys
- ExAC rs753713846
- TOPMed rs753713846
- gnomAD rs753713846
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.37
- CADD 0.36
- PolyPhen-2 0.00
- SIFT 0.35
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available