P43A (p.Pro43Ala) variant of CFH (Complement factor H)
P43A (p.Pro43Ala) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
P43A (p.Pro43Ala) variant details
- p.Pro43Ala
- rs764941928
- gnomAD 1-196673046-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0711
- REVEL 0.04
- CADD 6.66
- PolyPhen-2 0.95
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available