L7R (p.Leu7Arg) variant of F12 (Coagulation factor XII)
L7R (p.Leu7Arg) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L7R (p.Leu7Arg) variant details
- p.Leu7Arg
- gnomAD rs1439886452
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.71
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available