D38N (p.Asp38Asn) variant of SERPINC1 (Antithrombin-III)
D38N (p.Asp38Asn) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D38N (p.Asp38Asn) variant details
- p.Asp38Asn
- ESP rs145771113
- ExAC rs145771113
- TOPMed rs145771113
- gnomAD rs145771113
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.37
- CADD 22.90
- PolyPhen-2 0.61
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available