R27K (p.Arg27Lys) variant of CFH (Complement factor H)
R27K (p.Arg27Lys) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R27K (p.Arg27Lys) variant details
- p.Arg27Lys
- gnomAD 1-196672999-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0813
- REVEL 0.09
- CADD 0.86
- PolyPhen-2 0.01
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available