R172P (p.Arg172Pro) variant of F12 (Coagulation factor XII)
R172P (p.Arg172Pro) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R172P (p.Arg172Pro) variant details
- p.Arg172Pro
- gnomAD rs1233536521
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.23
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available