K536N (p.Lys536Asn) variant of F11 (Coagulation factor XI)
K536N (p.Lys536Asn) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K536N (p.Lys536Asn) variant details
- p.Lys536Asn
- rs774280710
- ClinGen CA3164056
- ClinVar RCV001095694
- ClinVar RCV001856291
- Pathogenic/Likely pathogenic
- not provided; Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- AlphaMissense 0.12
- MetaLR 0.04
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.88
- EVE 0.08
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary factor XI deficiency disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available