T46A (p.Thr46Ala) variant of CFH (Complement factor H)
T46A (p.Thr46Ala) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T46A (p.Thr46Ala) variant details
- p.Thr46Ala
- rs778461886
- gnomAD 1-196673055-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.34
- CADD 23.00
- PolyPhen-2 0.97
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available