G591D (p.Gly591Asp) variant of F11 (Coagulation factor XI)
G591D (p.Gly591Asp) 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 0.88 / 1. The record also includes population frequency data and structural context.
G591D (p.Gly591Asp) variant details
- p.Gly591Asp
- rs1580110270
- ClinGen CA358946036
- ClinVar RCV003576286
- ClinVar RCV005063050
- Pathogenic/Likely pathogenic
- not provided; Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.54
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary factor XI deficiency disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available