R83M (p.Arg83Met) variant of CFH (Complement factor H)
R83M (p.Arg83Met) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R83M (p.Arg83Met) variant details
- p.Arg83Met
- rs942264542
- gnomAD 1-196673860-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.22
- CADD 16.50
- PolyPhen-2 0.82
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available