G368E (p.Gly368Glu) variant of F11 (Coagulation factor XI)
G368E (p.Gly368Glu) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor XI deficiency disease; Plasma factor XI deficiency; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
G368E (p.Gly368Glu) variant details
- p.Gly368Glu
- rs748926718
- ClinGen CA358938939
- ClinVar RCV003555170
- ClinVar RCV005419654
- Pathogenic
- Hereditary factor XI deficiency disease; Plasma factor XI deficiency; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- AlphaMissense 0.35
- MetaLR 0.86
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.63
- ClinVar: Pathogenic (Hereditary factor XI deficiency disease; Plasma factor XI defici)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available