V611M (p.Val611Met) variant of F11 (Coagulation factor XI)
V611M (p.Val611Met) 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 Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
V611M (p.Val611Met) variant details
- p.Val611Met
- rs1741388544
- ClinGen CA358946247
- ClinVar RCV003404811
- Ensembl rs1741388544
- Likely pathogenic
- Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- AlphaMissense 0.38
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.57
- ClinVar: Likely pathogenic (Hereditary factor XI deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available