K92R (p.Lys92Arg) variant of F12 (Coagulation factor XII)
K92R (p.Lys92Arg) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
K92R (p.Lys92Arg) variant details
- p.Lys92Arg
- TOPMed rs1763273672
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.19
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available