I20S (p.Ile20Ser) variant of F12 (Coagulation factor XII)
I20S (p.Ile20Ser) 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.
I20S (p.Ile20Ser) variant details
- p.Ile20Ser
- ExAC rs780851583
- gnomAD rs780851583
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.13
- CADD 2.61
- PolyPhen-2 0.01
- SIFT 0.70
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available