N430K (p.Asn430Lys) variant of SERPINC1 (Antithrombin-III)
N430K (p.Asn430Lys) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N430K (p.Asn430Lys) variant details
- p.Asn430Lys
- ExAC rs746402824
- gnomAD rs746402824
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.20
- MetaLR 0.18
- MetaSVM -0.80
- CADD 16.20
- PolyPhen-2 0.24
- SIFT 0.12
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available