N107D (p.Asn107Asp) variant of SERPINC1 (Antithrombin-III)
N107D (p.Asn107Asp) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
N107D (p.Asn107Asp) variant details
- p.Asn107Asp
- gnomAD rs1458529321
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.85
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available