V516M (p.Val516Met) variant of F11 (Coagulation factor XI)
V516M (p.Val516Met) 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. 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.
V516M (p.Val516Met) variant details
- p.Val516Met
- rs200622588
- ClinGen CA3164022
- ClinVar RCV000671819
- 1000Genomes rs200622588
- Pathogenic/Likely pathogenic
- Plasma factor XI deficiency; Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- AlphaMissense 0.42
- MetaLR 0.91
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Pathogenic/Likely pathogenic (Plasma factor XI deficiency; Hereditary factor XI deficiency dis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available