D65N (p.Asp65Asn) variant of SERPINC1 (Antithrombin-III)
D65N (p.Asp65Asn) 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.
D65N (p.Asp65Asn) variant details
- p.Asp65Asn
- TOPMed rs936295966
- gnomAD rs936295966
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.18
- CADD 17.30
- PolyPhen-2 0.03
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available