S243F (p.Ser243Phe) variant of F11 (Coagulation factor XI)
S243F (p.Ser243Phe) 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 Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
S243F (p.Ser243Phe) variant details
- p.Ser243Phe
- rs1262002209
- ClinGen CA358959380
- NCI-TCGA Cosmic COSV5300
- cosmic curated COSV53005
- Pathogenic/Likely pathogenic
- Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- AlphaMissense 0.31
- MetaLR 0.78
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.20
- ClinVar: Pathogenic/Likely pathogenic (Hereditary factor XI deficiency disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available