I15V (p.Ile15Val) variant of CFH (Complement factor H)
I15V (p.Ile15Val) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
I15V (p.Ile15Val) variant details
- p.Ile15Val
- rs1391516616
- gnomAD 1-196652160-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.03
- CADD 9.38
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available