T43I (p.Thr43Ile) variant of F12 (Coagulation factor XII)
T43I (p.Thr43Ile) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T43I (p.Thr43Ile) variant details
- p.Thr43Ile
- ExAC rs758012424
- gnomAD rs758012424
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.29
- CADD 17.10
- PolyPhen-2 0.19
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available