F156S (p.Phe156Ser) variant of F11 (Coagulation factor XI)
F156S (p.Phe156Ser) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
F156S (p.Phe156Ser) variant details
- p.Phe156Ser
- rs144674776
- ClinGen CA358958708
- ClinVar RCV003212721
- ESP rs144674776
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.62
- MetaLR 0.68
- MetaSVM 0.22
- CADD 21.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)