T180I (p.Thr180Ile) variant of F12 (Coagulation factor XII)
T180I (p.Thr180Ile) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
T180I (p.Thr180Ile) variant details
- p.Thr180Ile
- TOPMed rs1261479089
- gnomAD rs1261479089
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.13
- CADD 11.50
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available