N75H (p.Asn75His) variant of CFH (Complement factor H)
N75H (p.Asn75His) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
N75H (p.Asn75His) variant details
- p.Asn75His
- rs1439683865
- gnomAD 1-196673142-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0619
- REVEL 0.05
- CADD 2.14
- PolyPhen-2 1.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available