E69G (p.Glu69Gly) variant of SERPINC1 (Antithrombin-III)
E69G (p.Glu69Gly) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
E69G (p.Glu69Gly) variant details
- p.Glu69Gly
- cosmic curated COSV62929
- ESP rs377500819
- ExAC rs377500819
- TOPMed rs377500819
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.14
- CADD 22.90
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available