G573E (p.Gly573Glu) variant of F11 (Coagulation factor XI)
G573E (p.Gly573Glu) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Plasma factor XI deficiency; Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G573E (p.Gly573Glu) variant details
- p.Gly573Glu
- rs754109115
- ClinGen CA3164105
- cosmic curated COSV53002
- ClinVar RCV000668664
- Likely pathogenic
- Plasma factor XI deficiency; Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.86
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Likely pathogenic (Plasma factor XI deficiency; Hereditary factor XI deficiency dis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available