P48H (p.Pro48His) variant of SERPINC1 (Antithrombin-III)
P48H (p.Pro48His) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
P48H (p.Pro48His) variant details
- p.Pro48His
- Ensembl rs1657921983
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.71
- CADD 27.80
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.0003)
- Structural context available