R2K (p.Arg2Lys) variant of CFH (Complement factor H)
R2K (p.Arg2Lys) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R2K (p.Arg2Lys) variant details
- p.Arg2Lys
- gnomAD 1-196652122-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.09
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available