D106N (p.Asp106Asn) variant of SERPINC1 (Antithrombin-III)
D106N (p.Asp106Asn) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
D106N (p.Asp106Asn) variant details
- p.Asp106Asn
- gnomAD rs1280660055
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.26
- CADD 25.30
- PolyPhen-2 0.63
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available