K112E (p.Lys112Glu) variant of F11 (Coagulation factor XI)
K112E (p.Lys112Glu) 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 0.40 / 1. The record also includes published literature and structural context.
K112E (p.Lys112Glu) variant details
- p.Lys112Glu
- rs2477244310
- ClinGen CA358958407
- ClinVar RCV002906642
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.34
- ESM-1b 0.31
- AlphaMissense 0.09
- MetaLR 0.71
- MetaSVM 0.25
- CADD 16.14
- 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)