R46Q (p.Arg46Gln) variant of F5 (Coagulation factor V)
R46Q (p.Arg46Gln) in F5 (Coagulation factor V) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R46Q (p.Arg46Gln) variant details
- p.Arg46Gln
- rs929730407
- ClinGen CA32418063
- ClinVar RCV003265776
- TOPMed rs929730407
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.38
- CADD 13.30
- PolyPhen-2 0.48
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- 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)