T76I (p.Thr76Ile) variant of SERPINC1 (Antithrombin-III)
T76I (p.Thr76Ile) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
T76I (p.Thr76Ile) variant details
- p.Thr76Ile
- TOPMed rs948537396
- gnomAD rs948537396
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.54
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available