P69S (p.Pro69Ser) variant of F12 (Coagulation factor XII)
P69S (p.Pro69Ser) in F12 (Coagulation factor XII) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
P69S (p.Pro69Ser) variant details
- p.Pro69Ser
- rs1190497858
- TOPMed rs1190497858
- gnomAD rs1190497858
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.06
- CADD 12.70
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available