V72F (p.Val72Phe) variant of CFH (Complement factor H)
V72F (p.Val72Phe) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V72F (p.Val72Phe) variant details
- p.Val72Phe
- rs766241195
- gnomAD 1-196673133-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.34
- CADD 22.10
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available