K79R (p.Lys79Arg) variant of CFH (Complement factor H)
K79R (p.Lys79Arg) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
K79R (p.Lys79Arg) variant details
- p.Lys79Arg
- rs1247978300
- gnomAD 1-196673155-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0458
- REVEL 0.03
- CADD 1.77
- PolyPhen-2 0.44
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available