V38F (p.Val38Phe) variant of F11 (Coagulation factor XI)
V38F (p.Val38Phe) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
V38F (p.Val38Phe) variant details
- p.Val38Phe
- rs1165596644
- ClinGen CA358957914
- ClinVar RCV004385772
- TOPMed rs1165596644
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- AlphaMissense 0.14
- MetaLR 0.76
- MetaSVM 0.13
- PolyPhen-2 1.00
- SIFT 0.10
- EVE 0.20
- 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)