G478R (p.Gly478Arg) variant of F11 (Coagulation factor XI)
G478R (p.Gly478Arg) 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 Hereditary factor XI deficiency disease; Plasma factor XI deficiency; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G478R (p.Gly478Arg) variant details
- p.Gly478Arg
- rs542967227
- ClinGen CA3163979
- cosmic curated COSV53002
- ClinVar RCV000352684
- Pathogenic/Likely pathogenic
- Hereditary factor XI deficiency disease; Plasma factor XI deficiency; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- AlphaMissense 0.38
- MetaLR 0.59
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.21
- ClinVar: Pathogenic/Likely pathogenic (Hereditary factor XI deficiency disease; Plasma factor XI defici)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available