D90G (p.Asp90Gly) variant of CFH (Complement factor H)
D90G (p.Asp90Gly) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D90G (p.Asp90Gly) variant details
- p.Asp90Gly
- rs1239695899
- gnomAD 1-196673881-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.76
- MetaLR 0.46
- MetaSVM -0.04
- CADD 29.50
- PolyPhen-2 0.91
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available