H87N (p.His87Asn) variant of CFH (Complement factor H)
H87N (p.His87Asn) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
H87N (p.His87Asn) variant details
- p.His87Asn
- gnomAD 1-196673871-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.16
- MetaLR 0.23
- MetaSVM -0.90
- CADD 21.10
- PolyPhen-2 0.47
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available