V17E (p.Val17Glu) variant of CFH (Complement factor H)
V17E (p.Val17Glu) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
V17E (p.Val17Glu) variant details
- p.Val17Glu
- gnomAD 1-196652167-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.15
- CADD 23.40
- PolyPhen-2 0.82
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available