W425R (p.Trp425Arg) variant of F11 (Coagulation factor XI)
W425R (p.Trp425Arg) 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 Factor XI deficiency. 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.
W425R (p.Trp425Arg) variant details
- p.Trp425Arg
- rs1554083512
- ClinGen CA358942171
- ClinVar RCV000666407
- Ensembl rs1554083512
- Likely pathogenic
- Factor XI deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 0.95
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Likely pathogenic (Factor XI deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available