N50D (p.Asn50Asp) variant of SERPINC1 (Antithrombin-III)
N50D (p.Asn50Asp) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
N50D (p.Asn50Asp) variant details
- p.Asn50Asp
- gnomAD rs1433461494
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.32
- CADD 22.30
- PolyPhen-2 0.10
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available