R57I (p.Arg57Ile) variant of CFH (Complement factor H)
R57I (p.Arg57Ile) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R57I (p.Arg57Ile) variant details
- p.Arg57Ile
- gnomAD 1-196673089-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.29
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available