K82I (p.Lys82Ile) variant of CFH (Complement factor H)
K82I (p.Lys82Ile) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K82I (p.Lys82Ile) variant details
- p.Lys82Ile
- gnomAD 1-196673857-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.23
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available