R67M (p.Arg67Met) variant of CFH (Complement factor H)
R67M (p.Arg67Met) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R67M (p.Arg67Met) variant details
- p.Arg67Met
- gnomAD 1-196673119-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.24
- CADD 1.76
- PolyPhen-2 0.85
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available