G69R (p.Gly69Arg) variant of CFH (Complement factor H)
G69R (p.Gly69Arg) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G69R (p.Gly69Arg) variant details
- p.Gly69Arg
- rs760619101
- gnomAD 1-196673124-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.42
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available