A18G (p.Ala18Gly) variant of CFH (Complement factor H)
A18G (p.Ala18Gly) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A18G (p.Ala18Gly) variant details
- p.Ala18Gly
- gnomAD 1-196652170-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.11
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available