Q102K (p.Gln102Lys) variant of F11 (Coagulation factor XI)
Q102K (p.Gln102Lys) in F11 (Coagulation factor XI) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Q102K (p.Gln102Lys) variant details
- p.Gln102Lys
- 1000Genomes rs543131176
- ExAC rs543131176
- gnomAD rs543131176
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.81
- MetaSVM 0.68
- CADD 24.30
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available