N105H (p.Asn105His) variant of SERPINC1 (Antithrombin-III)
N105H (p.Asn105His) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N105H (p.Asn105His) variant details
- p.Asn105His
- TOPMed rs1335457606
- gnomAD rs1335457606
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.22
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available