R146Q (p.Arg146Gln) variant of F5 (Coagulation factor V)
R146Q (p.Arg146Gln) 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 Congenital factor V deficiency; Budd-Chiari syndrome; Thrombophilia due to activ. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R146Q (p.Arg146Gln) variant details
- p.Arg146Gln
- rs145625079
- ClinGen CA1234606
- cosmic curated COSV63122
- ClinVar RCV000289118
- Uncertain significance
- Congenital factor V deficiency; Budd-Chiari syndrome; Thrombophilia due to activ
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.31
- CADD 3.95
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Congenital factor V deficiency; Budd-Chiari syndrome; Thrombophi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Thrombophilia testing: A British Society for Haematology guideline. (PMID 35645034)
- Cited in: Factor V Leiden Thrombophilia. (PMID 20301542)