P43T (p.Pro43Thr) variant of CFH (Complement factor H)
P43T (p.Pro43Thr) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P43T (p.Pro43Thr) variant details
- p.Pro43Thr
- rs764941928
- gnomAD 1-196673046-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.08
- CADD 13.80
- PolyPhen-2 0.98
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available