T34I (p.Thr34Ile) variant of CFH (Complement factor H)
T34I (p.Thr34Ile) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T34I (p.Thr34Ile) variant details
- p.Thr34Ile
- rs765897045
- gnomAD 1-196673020-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.26
- CADD 17.50
- PolyPhen-2 0.56
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available