R27T (p.Arg27Thr) variant of CFH (Complement factor H)
R27T (p.Arg27Thr) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R27T (p.Arg27Thr) variant details
- p.Arg27Thr
- rs1166473674
- gnomAD 1-196672999-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.11
- CADD 7.42
- Population evidence available
- Structural context available
- Literature evidence available