A48V (p.Ala48Val) variant of CFH (Complement factor H)
A48V (p.Ala48Val) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- rs1160820929
- gnomAD 1-196673062-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.17
- CADD 21.30
- PolyPhen-2 0.93
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available