R45Q (p.Arg45Gln) variant of SERPINC1 (Antithrombin-III)
R45Q (p.Arg45Gln) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R45Q (p.Arg45Gln) variant details
- p.Arg45Gln
- ExAC rs749308643
- gnomAD rs749308643
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.47
- CADD 25.40
- PolyPhen-2 0.77
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available