H29R (p.His29Arg) variant of F12 (Coagulation factor XII)
H29R (p.His29Arg) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
H29R (p.His29Arg) variant details
- p.His29Arg
- TOPMed rs1763349256
- gnomAD rs1763349256
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.13
- CADD 3.19
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available