K6R (p.Lys6Arg) variant of CFH (Complement factor H)
K6R (p.Lys6Arg) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
K6R (p.Lys6Arg) variant details
- p.Lys6Arg
- rs1356316928
- gnomAD 1-196652134-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0654
- REVEL 0.03
- CADD 7.75
- PolyPhen-2 0.02
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available