T117M (p.Thr117Met) variant of SERPINC1 (Antithrombin-III)
T117M (p.Thr117Met) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
T117M (p.Thr117Met) variant details
- p.Thr117Met
- ESP rs139392083
- ExAC rs139392083
- gnomAD rs139392083
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.79
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available