N75K (p.Asn75Lys) variant of CFH (Complement factor H)
N75K (p.Asn75Lys) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N75K (p.Asn75Lys) variant details
- p.Asn75Lys
- rs764849497
- gnomAD 1-196673144-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.29
- CADD 14.50
- PolyPhen-2 1.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available