D82N (p.Asp82Asn) variant of F12 (Coagulation factor XII)
D82N (p.Asp82Asn) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D82N (p.Asp82Asn) variant details
- p.Asp82Asn
- gnomAD rs1200031124
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.40
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available