I49V (p.Ile49Val) variant of CFH (Complement factor H)
I49V (p.Ile49Val) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
I49V (p.Ile49Val) variant details
- p.Ile49Val
- rs747546121
- gnomAD 1-196673064-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0393
- REVEL 0.01
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.90
- Population evidence available
- Structural context available
- Literature evidence available