K201N (p.Lys201Asn) variant of SERPINC1 (Antithrombin-III)
K201N (p.Lys201Asn) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
K201N (p.Lys201Asn) variant details
- p.Lys201Asn
- ExAC rs779025291
- TOPMed rs779025291
- gnomAD rs779025291
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.52
- CADD 23.20
- PolyPhen-2 0.94
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available