P26L (p.Pro26Leu) variant of CFH (Complement factor H)
P26L (p.Pro26Leu) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- gnomAD 1-196672996-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.39
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available