Q132R (p.Gln132Arg) variant of SERPINC1 (Antithrombin-III)
Q132R (p.Gln132Arg) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q132R (p.Gln132Arg) variant details
- p.Gln132Arg
- TOPMed rs1657907168
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.27
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available