Q83K (p.Gln83Lys) variant of F12 (Coagulation factor XII)
Q83K (p.Gln83Lys) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Q83K (p.Gln83Lys) variant details
- p.Gln83Lys
- 1000Genomes rs201513662
- ExAC rs201513662
- gnomAD rs201513662
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.19
- CADD 23.10
- PolyPhen-2 0.93
- SIFT 0.06
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available