S111R (p.Ser111Arg) variant of F5 (Coagulation factor V)
S111R (p.Ser111Arg) 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 Factor V deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S111R (p.Ser111Arg) variant details
- p.Ser111Arg
- rs1571598716
- ClinGen CA343141988
- ClinVar RCV000851635
- TOPMed rs1571598716
- Uncertain significance
- Factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.95
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Factor V deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Factor V Leiden Thrombophilia. (PMID 20301542)
- Cited in: Recommendations from the EGAPP Working Group: routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A)… (PMID 21150787)