G354R (p.Gly354Arg) variant of F11 (Coagulation factor XI)
G354R (p.Gly354Arg) 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 Plasma factor XI deficiency; Hereditary factor XI deficiency disease; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G354R (p.Gly354Arg) variant details
- p.Gly354Arg
- rs777714867
- ClinGen CA3163867
- ClinVar RCV002002875
- ClinVar RCV002280909
- Pathogenic/Likely pathogenic
- Plasma factor XI deficiency; Hereditary factor XI deficiency disease; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- AlphaMissense 0.76
- MetaLR 0.86
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic/Likely pathogenic (Plasma factor XI deficiency; Hereditary factor XI deficiency dis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available