D20G (p.Asp20Gly) variant of CFH (Complement factor H)
D20G (p.Asp20Gly) 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.
D20G (p.Asp20Gly) variant details
- p.Asp20Gly
- gnomAD 1-196672978-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.26
- CADD 23.90
- PolyPhen-2 0.73
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available