P71S (p.Pro71Ser) variant of F12 (Coagulation factor XII)
P71S (p.Pro71Ser) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P71S (p.Pro71Ser) variant details
- p.Pro71Ser
- TOPMed rs1417507270
- gnomAD rs1417507270
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.09
- CADD 15.90
- PolyPhen-2 0.18
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available