K6N (p.Lys6Asn) variant of CFH (Complement factor H)
K6N (p.Lys6Asn) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
K6N (p.Lys6Asn) variant details
- p.Lys6Asn
- gnomAD 1-196652135-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.09
- CADD 15.00
- PolyPhen-2 0.35
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available