R27G (p.Arg27Gly) variant of CFH (Complement factor H)
R27G (p.Arg27Gly) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R27G (p.Arg27Gly) variant details
- p.Arg27Gly
- rs1381537563
- gnomAD 1-196672998-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.16
- CADD 23.40
- PolyPhen-2 0.47
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available