R56H (p.Arg56His) variant of SERPINC1 (Antithrombin-III)
R56H (p.Arg56His) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R56H (p.Arg56His) variant details
- p.Arg56His
- cosmic curated COSV62929
- ExAC rs777405542
- TOPMed rs777405542
- gnomAD rs777405542
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.61
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00016)
- Structural context available