T41I (p.Thr41Ile) variant of CFH (Complement factor H)
T41I (p.Thr41Ile) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
T41I (p.Thr41Ile) variant details
- p.Thr41Ile
- rs1192717326
- gnomAD 1-196673041-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.10
- CADD 11.80
- PolyPhen-2 0.80
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available