V72I (p.Val72Ile) variant of CFH (Complement factor H)
V72I (p.Val72Ile) 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.
V72I (p.Val72Ile) variant details
- p.Val72Ile
- rs766241195
- gnomAD 1-196673133-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.14
- CADD 16.80
- PolyPhen-2 0.91
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available