T76S (p.Thr76Ser) variant of SERPINC1 (Antithrombin-III)
T76S (p.Thr76Ser) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
T76S (p.Thr76Ser) variant details
- p.Thr76Ser
- TOPMed rs948537396
- gnomAD rs948537396
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.55
- CADD 25.50
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available