K105N (p.Lys105Asn) variant of F5 (Coagulation factor V)
K105N (p.Lys105Asn) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
K105N (p.Lys105Asn) variant details
- p.Lys105Asn
- ExAC rs754465637
- TOPMed rs754465637
- gnomAD rs754465637
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.38
- CADD 16.30
- PolyPhen-2 0.06
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available