D106V (p.Asp106Val) variant of SERPINC1 (Antithrombin-III)
D106V (p.Asp106Val) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D106V (p.Asp106Val) variant details
- p.Asp106Val
- TOPMed rs1452345419
- gnomAD rs1452345419
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.49
- CADD 25.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available