D46N (p.Asp46Asn) variant of SERPINC1 (Antithrombin-III)
D46N (p.Asp46Asn) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
D46N (p.Asp46Asn) variant details
- p.Asp46Asn
- Ensembl rs1657922481
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.48
- CADD 25.10
- PolyPhen-2 0.45
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available