A174S (p.Ala174Ser) variant of F12 (Coagulation factor XII)
A174S (p.Ala174Ser) in F12 (Coagulation factor XII) is a missense change. Clinical records from ClinVar 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 0.31 / 1. The record also includes population frequency data and structural context.
A174S (p.Ala174Ser) variant details
- p.Ala174Ser
- TOPMed rs1221457014
- gnomAD rs1221457014
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.24
- CADD 8.63
- PolyPhen-2 0.08
- SIFT 0.54
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available