E138Q (p.Glu138Gln) variant of F11 (Coagulation factor XI)
E138Q (p.Glu138Gln) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E138Q (p.Glu138Gln) variant details
- p.Glu138Gln
- rs1219071481
- ClinGen CA358958589
- ClinVar RCV004385776
- gnomAD rs1219071481
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.08
- MetaLR 0.49
- MetaSVM -0.31
- PolyPhen-2 0.06
- SIFT 0.23
- EVE 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)