H97D (p.His97Asp) variant of F12 (Coagulation factor XII)
H97D (p.His97Asp) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
H97D (p.His97Asp) variant details
- p.His97Asp
- ESP rs145282532
- gnomAD rs145282532
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.55
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available