K82R (p.Lys82Arg) variant of CFH (Complement factor H)
K82R (p.Lys82Arg) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
K82R (p.Lys82Arg) variant details
- p.Lys82Arg
- rs376337060
- gnomAD 1-196673857-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.00
- CADD 23.00
- PolyPhen-2 0.96
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available