K30N (p.Lys30Asn) variant of F12 (Coagulation factor XII)
K30N (p.Lys30Asn) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
K30N (p.Lys30Asn) variant details
- p.Lys30Asn
- gnomAD rs1320004999
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.08
- CADD 12.40
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available