P77R (p.Pro77Arg) variant of F12 (Coagulation factor XII)
P77R (p.Pro77Arg) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P77R (p.Pro77Arg) variant details
- p.Pro77Arg
- ExAC rs781746382
- gnomAD rs781746382
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.15
- CADD 23.60
- PolyPhen-2 0.69
- SIFT 0.23
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available