R28S (p.Arg28Ser) variant of F10 (Coagulation factor X)
R28S (p.Arg28Ser) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Factor X deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R28S (p.Arg28Ser) variant details
- p.Arg28Ser
- rs1212018525
- ClinGen CA388787422
- ClinVar RCV001420412
- TOPMed rs1212018525
- Uncertain significance
- Factor X deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.33
- CADD 5.87
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Uncertain significance (Factor X deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available