K82S (p.Lys82Ser) variant of CFH (Complement factor H)
K82S (p.Lys82Ser) in CFH (Complement factor H) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K82S (p.Lys82Ser) variant details
- p.Lys82Ser
- gnomAD 1-196673854-TAGAA
- Splice Acceptor
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available