R2T (p.Arg2Thr) variant of CFH (Complement factor H)
R2T (p.Arg2Thr) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R2T (p.Arg2Thr) variant details
- p.Arg2Thr
- rs142266551
- gnomAD 1-196652122-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.15
- CADD 16.90
- PolyPhen-2 0.29
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available