V72L (p.Val72Leu) variant of CFH (Complement factor H)
V72L (p.Val72Leu) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V72L (p.Val72Leu) variant details
- p.Val72Leu
- rs766241195
- gnomAD 1-196673133-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.07
- CADD 17.40
- PolyPhen-2 0.91
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available