V325F (p.Val325Phe) variant of F11 (Coagulation factor XI)
V325F (p.Val325Phe) 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 0.41 / 1. The record also includes population frequency data and structural context.
V325F (p.Val325Phe) variant details
- p.Val325Phe
- rs764711007
- ClinGen CA358938115
- ClinVar RCV002245402
- ExAC rs764711007
- Likely pathogenic
- Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- AlphaMissense 0.11
- MetaLR 0.43
- MetaSVM -0.37
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.18
- ClinVar: Likely pathogenic (Hereditary factor XI deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available