G591A (p.Gly591Ala) variant of F11 (Coagulation factor XI)
G591A (p.Gly591Ala) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
G591A (p.Gly591Ala) variant details
- p.Gly591Ala
- rs1580110270
- ClinGen CA358946038
- ClinVar RCV000851721
- TOPMed rs1580110270
- Uncertain significance
- 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: Uncertain significance (Hereditary factor XI deficiency disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available