P103R (p.Pro103Arg) variant of F12 (Coagulation factor XII)
P103R (p.Pro103Arg) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P103R (p.Pro103Arg) variant details
- p.Pro103Arg
- ExAC rs769517704
- gnomAD rs769517704
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.76
- CADD 23.60
- PolyPhen-2 0.28
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available