T34R (p.Thr34Arg) variant of CFH (Complement factor H)
T34R (p.Thr34Arg) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T34R (p.Thr34Arg) variant details
- p.Thr34Arg
- rs765897045
- gnomAD 1-196673020-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.62
- CADD 14.20
- PolyPhen-2 0.85
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available