F30S (p.Phe30Ser) variant of F11 (Coagulation factor XI)
F30S (p.Phe30Ser) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, 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 0.81 / 1. The record also includes published literature and structural context.
F30S (p.Phe30Ser) variant details
- p.Phe30Ser
- rs932824943
- ClinGen CA358957865
- ClinVar RCV002280987
- UniProt VAR 076515
- Uncertain significance
- Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- AlphaMissense 0.87
- MetaLR 0.87
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.48
- ClinVar: Uncertain significance (Hereditary factor XI deficiency disease)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Structural context available
- Cited in: Molecular basis and bleeding manifestations of factor XI deficiency in 11 Turkish families. (PMID 25158988)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)