V89M (p.Val89Met) variant of F11 (Coagulation factor XI)
V89M (p.Val89Met) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V89M (p.Val89Met) variant details
- p.Val89Met
- cosmic curated COSV53006
- Ensembl rs1740101842
- Uncertain significance
- Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.79
- MetaSVM 0.70
- CADD 18.10
- ClinVar: Uncertain significance (Hereditary factor XI deficiency disease)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available