D104E (p.Asp104Glu) variant of SERPINC1 (Antithrombin-III)
D104E (p.Asp104Glu) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D104E (p.Asp104Glu) variant details
- p.Asp104Glu
- gnomAD rs1657911519
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.25
- CADD 15.80
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available