K60R (p.Lys60Arg) variant of F12 (Coagulation factor XII)
K60R (p.Lys60Arg) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
K60R (p.Lys60Arg) variant details
- p.Lys60Arg
- 1000Genomes rs199595550
- ExAC rs199595550
- TOPMed rs199595550
- gnomAD rs199595550
- Missense
- Variant Prioritization Score for Impact Estimate 0.0868
- REVEL 0.06
- CADD 8.88
- PolyPhen-2 0.03
- SIFT 0.40
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available