N29H (p.Asn29His) variant of CFH (Complement factor H)
N29H (p.Asn29His) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N29H (p.Asn29His) variant details
- p.Asn29His
- gnomAD 1-196673004-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.27
- CADD 7.68
- PolyPhen-2 0.92
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available