K6E (p.Lys6Glu) variant of CFH (Complement factor H)
K6E (p.Lys6Glu) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
K6E (p.Lys6Glu) variant details
- p.Lys6Glu
- rs749875053
- gnomAD 1-196652133-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.07
- CADD 11.10
- PolyPhen-2 0.06
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available