V17I (p.Val17Ile) variant of CFH (Complement factor H)
V17I (p.Val17Ile) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V17I (p.Val17Ile) variant details
- p.Val17Ile
- gnomAD 1-196652166-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.02
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available