Q132H (p.Gln132His) variant of SERPINC1 (Antithrombin-III)
Q132H (p.Gln132His) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q132H (p.Gln132His) variant details
- p.Gln132His
- TOPMed rs1657906967
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.37
- CADD 23.40
- PolyPhen-2 0.39
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available